ALL Syndromes - Clinical Features

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Select a dysmorphic syndrome by clicking on the relevant LINK

• AAGENAES - RECURRENT CHOLESTASIS; LYMPHOEDEMA      
• AARSKOG SYNDROME
• AASE - TRIPHALANGEAL THUMB; CONGENITAL ANAEMIA
• AASE-SMITH - HYDROCEPHALUS; CLEFT PALATE; JOINT CONTRACTURES
• ABBOUD (1985) - DIABETES; KETOGLUTARATE DEHYDROGENASE DEFICIENCY; DEAFNESS
• ABDALLAT (1980) - NEUROCUTANEOUS SYNDROME
• ABETALIPOPROTEINAEMIA (BASSEN-KORNZWEIG SYNDROME)
• ABLEPHARON-ICHTHYOSIS
• ABLEPHARON-MACROSTOMIA
• ABRUZZO (1977) - CLEFT PALATE; COLOBOMA; RADIAL SYNOSTOSIS
• ABSENT SEPTUM PELLUCIDUM-PORENCEPHALY
• ACALVARIA
• ACCESSORY BRAIN OR EXTRACEREBRAL HETEROTOPIA
• ACHALASIA (FAMILIAL)
• ACHALASIA-MICROCEPHALY
• ACHEIROPODIA (HANDLESS-FOOTLESS FAMILIES OF BRAZIL)
• ACHONDROGENESIS TYPE 1
• ACHONDROGENESIS TYPE 2
• ACHONDROPLASIA
• ACKERMAN - PYRAMIDAL AND FUSED MOLAR ROOTS
• ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME                                      
• ACRO-OSTEOLYSIS (AUTOSOMAL DOMINANT)
• ACRO-OSTEOLYSIS-INTESTINAL LYMPHANGIECTASIA
• ACRO-RENAL-MANDIBULAR SYNDROME
• ACRO-RENAL-OCULAR - THUMB ANOMALIES; RENAL ECTOPIA; COLOBOMAS
• ACRO-SPONDYLAR VARIANT OF PUNCTATE EPIPHYSEAL DYSPLASIA
• ACROCALLOSAL - AGENESIS CORPUS CALLOSUM; MENTAL RETARDATION; POLYDACTYLY
• ACROCEPHALOPOLYSYNDACTYLY TYPE IV
• ACRODERMATITIS ENTEROPATHICA
• ACRODYSOSTOSIS
• ACROFACIAL DYSOSTOSIS (AUTOSOMAL DOMINANT)
• ACROFACIAL DYSOSTOSIS WITH POST-AXIAL DEFECTS
• ACROFACIAL DYSOSTOSIS WITH POSTAXIAL AND VERTEBRAL DEFECTS
• ACROFACIAL DYSOSTOSIS WITH SEVERE LIMB DEFECTS
• ACROFACIAL DYSOSTOSIS, CATANIA FORM
• ACROFACIAL DYSOSTOSIS, TYPE RODRIGUEZ
• ACROGERIA
• ACROMEGALY-ACANTHOSIS NIGRICANS
• ACROMELIC FRONTONASAL "DYSPLASIA"
• ACROMESOMELIC DWARFISM
• ACROMICRIC DYSPLASIA
• ACROPECTOROVERTEBRAL (F-SYNDROME)
• ACRORENAL (DIEKER)
• ACRORENAL (SIEGLER)
• ACRORENAL DEFECTS-ECTODERMAL DYSPLASIA-LIPOATROPHIC DIABETES (AREDYLD)
• ADAMS-OLIVER - SCALP DEFECTS; TERMINAL TRANSVERSE DEFECTS                  
• ADAMSBAUM (1991) - MINOR TIBIAL DUPLICATION
• ADRENAL HYPOPLASIA-GONADOTROPHIN DEFICIENCY-DEAFNESS
• ADRENAL HYPOPLASIA-MENTAL RETARDATION-MUSCULAR DYSTROPHY
• ADRENOLEUKODYSTROPHY, NEONATAL (AUTOSOMAL RECESSIVE)
• ADRENOLEUKODYSTROPHY, PSEUDO-NEONATAL
• AGLOSSIA-SITUS INVERSUS
• AGNATHIA-HOLOPROSENCEPHALY
• AICARDI SYNDROME
• AICARDI-GOUTIERES - MICROCEPHALY; CALCIFICATION OF BASAL GANGLIA
• AL FRAYH (1987) - ANOPHTHALMIA; MICROCEPHALY; HYPOGONADISM; MR
• AL GAZALI (1994) - ANTERIOR SEGMENT ANOMALIES; CLEFTING;SKELETAL ANOMALIES
• AL-AWADI (1985) - ALOPECIA; HYPOGONADISM
• AL-AWADI (1987) - HYPOPLASTIC TIBIAE; POST-AXIAL POLYDACTYLY
• AL-GAZALI (1988) - HIRSCHSPRUNG; HYPOPLASTIC NAILS
• AL-GAZALI (1990) - T(X;Y) FEMALES; LINEAR SKIN DEFECTS; MICROPHTHALMIA
• ALAR CLEFTS-HYPERTELORISM
• ALBINISM, OCULOCUTANEOUS
• ALBRECTSEN (1956) - HYPOTRICHOSIS; SYNDACTYLY; RETINAL DEGENERATION
• ALBRIGHT - PSEUDO, AND PSEUDO-PSEUDOHYPOPARATHYROIDISM
• ALEXANDER'S DISEASE                                                                                                  
• ALKAPTONURIA
• ALLAN-HERNDON SYNDROME
• ALLANSON (1985) - CLEFTING; ECTROPION; TEETH ABNORMALITIES
• ALOPECIA TOTALIS-NAIL DYSPLASIA-AMELOGENESIS IMPERFECTA
• ALOPECIA UNIVERSALIS
• ALOPECIA-ANTIBODY DEFICIENCY
• ALOPECIA-HYPERKERATOSIS (AUTOSOMAL DOMINANT)
• ALOPECIA-MENTAL RETARDATION-SEIZURES
• ALOPECIA-METAPHYSEAL DYSPLASIA
• ALOPECIA-ONYCHODYSPLASIA-HYPOHIDROSIS-DEAFNESS
• ALOPECIA-PAPULAR LESIONS OF THE SKIN
• ALOPECIA-SKELETAL ANOMALIES-MENTAL RETARDATION
• ALPERS' PROGRESSIVE INFANTILE POLIODYSTROPHY
• ALPHA THALASSAEMIA-MENTAL RETARDATION (NON-DELETION)
• ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY
• ALPORT - DEAFNESS; NEPHROPATHY
• ALSING (1988) - MACULAR COLOBOMA; NEPHRONOPHTHISIS; MESOMELIA
• ALSTROM SYNDROME
• ALVES (1981) - TRICHOOCULODERMOVERTEBRAL SYNDROME
• AMASTIA
• AMELOGENESIS IMPERFECTA (X-LINKED)
• AMELOGENESIS IMPERFECTA-RENAL CALCIFICATION
• AMNIOTIC BANDS / EARLY AMNION RUPTURE                                                            
• AMYLOIDOSIS TYPE 5, CRANIAL NEUROPATHY
• AMYOPLASIA
• ANDERMANN (1972) - AGENESIS OF CORPUS CALLOSUM; MR; NEUROPATHY
• ANDERSEN SYNDROME
• ANDERSON (1979) - APLASIA CUTIS; EAR MALFORMATION
• ANDERSON (1984) - HAEMOLYTIC ANAEMIA; EMPHYSEMA; CUTIS LAXA
• ANDERSON (FAMILIAL OSTEODYSPLASIA)
• ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA
• ANGELMAN (HAPPY PUPPET) SYNDROME
• ANGIOLIPOMATOSIS
• ANHALT (1995) - SPINAL DYSPLASIA (AUTOSOMAL DOMINANT)
• ANHIDROSIS-SENSORY NEUROPATHY
• ANIRIDIA PLUS
• ANIRIDIA-ABSENT PATELLA
• ANIRIDIA-DEAFNESS
• ANIRIDIA-MICROCORNEA-SUBLUXATED LENSES
• ANIRIDIA-WILMS' TUMOUR / WAGR SYNDROME
• ANKYLOBLEPHARON-ALVEOLAR SYNECHIA-ECTODERMAL DYSPLASIA
• ANNULAR PANCREAS
• ANONYCHIA-ECTRODACTYLY
• ANONYCHIA-ONYCHODYSTROPHY
• ANOPHTHALMIA (AUTOSOMAL RECESSIVE)
• ANOPHTHALMIA TYPE WAARDENBURG
• ANORCHIA, FAMILIAL CONGENITAL
• ANSELL (1975) - ARTHROPATHY; RASH; MR; MENINGITIS; EYE ANOMALIES                      
• ANTECUBITAL PTERYGIUM (AUTOSOMAL DOMINANT)
• ANTERIOR ENCEPHALOCELE
• ANTINOLO (1992) - SPASTIC PARAPLEGIA; POIKILODERMA
• ANTLEY-BIXLER - SYNOSTOSIS; BENT FEMURS; MULTIPLE FRACTURES
• AORTIC ANEURYSM-GLAUCOMA-DEAFNESS
• AORTIC DISSECTION - FAMILIAL
• AORTIC STENOSIS (AUTOSOMAL DOMINANT)
• APAK (1989) - X-LINKED CEREBELLAR ATAXIA
• APERT - ACROCEPHALOSYNDACTYLY TYPE I
• APLASIA CUTIS (ISOLATED)
• APPLE PEEL ATRESIA-OCULAR ANOMALIES-MICROCEPHALY
• APPLE PEEL CONGENITAL INTESTINAL ATRESIA
• AQUEDUCT STENOSIS (AUTOSOMAL RECESSIVE)
• ARENA (1992) - XLMR; SPASTIC PARAPLEGIA; IRON DEPOSITS IN BASAL GANGLIA
• ARGINASE DEFICIENCY
• ARGININOSUCCINIC ACIDURIA
• ARHINIA
• ARMENDARES (1974) - DWARFISM; RETINITIS PIGMENTOSA; CRANIOSYNOSTOSIS
• ARNOLD (1973) - BONE DYSPLASIA WITH SARCOMATA
• ARNOLD (1987) - CORNEAL CRYSTALS; MYOPATHY; NEPHROPATHY
• ARTERIAL CALCIFICATION
• ARTERIO-HEPATIC DYSPLASIA (ALAGILLE)
• ARTHROGRYPOSIS MULTIPLEX CONGENITA-HYPOPLASTIC POSTERIOR SPINAL ROOTS
• ARTHROGRYPOSIS TYPE 1 (X-LINKED)                                                                          
• ARTHROGRYPOSIS-ECTODERMAL DYSPLASIA
• ARTHROGRYPOSIS-LOWER MOTOR NEURON DISEASE (AUTOSOMAL DOMINANT)
• ARTHROGRYPOSIS-MICROCIRCULATION ABNORMALITIES
• ARTHROGRYPOSIS-OPHTHALMOPLEGIA
• ASCHER - BLEPHAROCHALASIS; DOUBLE LIP
• ASPARTYLGLUCOSAMINURIA
• ASTERNIA
• ASTERNIA WITH CARDIAC, DIAPHRAGMATIC, AND ABDOMINAL DEFECTS
• ASTLEY-KENDALL - SHORT-LIMBED DWARFISM WITH EXTENSIVE STIPPLING
• ASYMMETRIC CRYING FACIES
• ATAXIA, DEAF-MUTISM AND MUSCULAR WASTING - TYPE 1 (EARLY ONSET)
• ATAXIA-DEAFNESS-MENTAL RETARDATION (AUTOSOMAL RECESSIVE)
• ATAXIA-ICHTHYOSIS-HEPATOSPLENOMEGALY
• ATAXIA-PANCYTOPENIA
• ATAXIA-TELANGIECTASIA (LOUIS-BAR)
• ATELENCEPHALY
• ATELOSTEOGENESIS TYPE I
• ATELOSTEOGENESIS TYPE II
• ATELOSTEOGENESIS TYPE III
• ATLANTO-AXIAL FUSION
• ATRICHIA (AUTOSOMAL RECESSIVE)
• AUDITORY OSSICLE MALFORMATION (AUTOSOMAL DOMINANT)
• AURALCEPHALOSYNDACTYLY
• AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDOSIS-ECTODERMAL DYSPLASIA (APECED)
• AVASTHEY (1968) - PULMONARY HYPERTENSION; CEREBROVASCULAR ANOMALIES; OEDEMA
• AXIAL MESODERMAL DYSPLASIA
• AYAZI (1981) - CHOROIDERAEMIA; OBESITY; DEAFNESS
• BAETZ-GREENWALT (1983) - HYPOPLASTIC RIGHT HEART PLUS            
• BAISCH - POLYDACTYLY; ABSENT NAILS
• BALCI (1974) - OCULO-CEREBRAL SYNDROME
• BALLER-GEROLD - CRANIOSTENOSIS; RADIAL APLASIA
• BAMFORTH (1989) - HYPOTHYROIDISM; SPIKY HAIR; CLEFT PALATE
• BAND HETEROTOPIA
• BANKI (1965) - CARPAL SYNOSTOSIS; CLINODACTYLY; SHORT METACARPALS
• BANNAYAN-RILEY-RUVALCABA SYNDROME
• BARAITSER (1982) - CAMPTODACTYLY; SCOLIOSIS
• BARAITSER-WINTER - IRIS COLOBOMA; PTOSIS; HYPERTELORISM; MENTAL RETARDATION
• BARAKAT (1977) - NERVE DEAFNESS; NEPHROSIS; HYPOPARATHYROIDISM
• BARAKAT (1982) - MESANGIAL SCLEROSIS; OCULAR ABNORMALITIES
• BARBER (1979) - MICROCEPHALY; MICROPHTHALMIA; VERTEBRAL ANOMALIES
• BARBER-SAY - SHORT STATURE; HIRSUTISM; ECTROPION; COARSE FACE
• BARD (1979) - COLOBOMAS; CONTRACTURAL ARACHNODACTYLY
• BARDET-BIEDL (LAURENCE-MOON-BARDET-BIEDL) SYNDROME
• BART MECHANOBULLOUS DISEASE OF THE NEWBORN
• BARTSOCAS-PAPAS - POPLITEAL PTERYGIUM, SEVERE AUTOSOMAL RECESSIVE FORM    
• BASAL GANGLIA CALCIFICATION TYPE FAHR (AUTOSOMAL DOMINANT)
• BASAN ECTODERMAL DYSPLASIA
• BATEMAN (1986) - LIGNEOUS CONJUNCTIVITIS
• BAVINCK (1987) - MICROCEPHALY; EYE ANOMALIES; SHORT STATURE; MR
• BAWLE (1989) - AUTOSOMAL DOMINANT MICROCEPHALY; MENTAL RETARDATION
• BAZEX - BASAL CELL CARCINOMA; DEPRESSED SCARS/PITS
• BEALS (1967) - AURICULO-OSTEODYSPLASIA
• BEARDWELL (1969) - ANKYLOSING SPONDYLITIS AND TYLOSIS
• BEARE (1952) - PILI TORTI; ONYCHODYSPLASIA
• BEARE (1972) - ERYTHROKERATODERMA; DEAFNESS; PERIPHERAL NEUROPATHY
• BEARE-STEVENSON SYNDROME
• BEASLEY-COHEN - EHLERS-DANLOS SYNDROME WITH MENTAL RETARDATION
• BECKWITH-WIEDEMANN (EMG) SYNDROME
• BEEMER (1988) - PTOSIS; TELECANTHUS
• BEEMER-ROBINOW - CONGENITAL HEART DISEASE; DENSE BONES; AMBIGUOUS GENITALIA
• BEGEER (1991) - MR; CATARACT; ATAXIA; DEAFNESS; POLYNEUROPATHY
• BEHR'S SYNDROME
• BEIGHTON (1993) - ROD-CONE DYSTROPHY; SENSORINEURAL DEAFNESS; RENAL ANOMALY
• BEIGHTON (1993) - ROD-CONE DYSTROPHY; SENSORINEURAL DEAFNESS;RENAL ANOMALY
• BELLINI (1984) - WEDGE-SHAPED EPIPHYSES OF KNEES
• BENDON (1987) - HYDRANENCEPHALY; RENAL APLASIA
• BENNION (1984) - PALMAR HYPERKERATOSIS; GASTROINTESTINAL TUMOURS
• BERANT (1973) - RADIO-ULNAR SYNOSTOSIS; CRANIOSYNOSTOSIS
• BERARDINELLI - LIPODYSTROPHY (LAWRENCE-SEIP)                                                      
• BERGIA (1986) - CARDIOMYOPATHY; MENTAL RETARDATION; MUSCULAR DYSTROPHY
• BETA-MANNOSIDASE DEFICIENCY
• BEUKES FAMILIAL HIP DYSPLASIA
• BEVERIDGE (1973) - MACROCEPHALY; ABNORMAL PIGMENTATION; LARGE HANDS/FEET
• BEZIRDJIAN (1989) - SICKLE-SHAPED SCAPULAE; PIERRE ROBIN SEQUENCE
• BIEMOND I - BRACHYDACTYLY; ATAXIA
• BIEMOND II - OBESITY; POLYDACTYLY; IRIS COLOBOMA
• BILGINTURAN (1973) - BRACHYDACTYLY; HYPERTENSION
• BILOUS (1992) - HYPOPARATHYROIDISM; DEAFNESS; RENAL DYSPLASIA
• BINDER (MAXILLONASAL DYSOSTOSIS)
• BINDEWALD (1994) - FALLOT COMPLEX; MENTAL AND GROWTH RETARDATION
• BJORK-JAHNBERG - RETINAL DYSTROPHY; ALOPECIA
• BLACK LOCKS-ALBINISM-DEAFNESS SYNDROME (BADS)
• BLANCHET-BARDON (1987) - PALMOPLANTAR KERATODERMA; BREAST AND OVARIAN CANCER
• BLEPHARO-NASO-FACIAL SYNDROME
• BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (BPES)
• BLOMSTRAND (1985) - LETHAL DWARFISM WITH ADVANCED BONE AGE
• BLOOM SYNDROME
• BLOUNT DISEASE
• BLUE RUBBER BLEB NEVUS SYNDROME
• BOCIAN (1979) - HYPOHIDROTIC ECTODERMAL DYSPLASIA
• BOILEAU (1993) - MARFAN-LIKE DISORDER WITH AORTIC DILATION
• BONAVENTURE (1989) - LETHAL BRITTLE BONE SYNDROME                                          
• BONNEAU (1983) - POLYSYNDACTYLY; CARDIAC DEFECTS
• BOOK (1950) - PREMOLAR APLASIA; HYPERHIDROSIS; CANITIES PREMATURA
• BOOMERANG DYSPLASIA - LETHAL DWARFISM
• BORJESON-FORSSMAN-LEHMANN - MICROCEPHALY; OBESITY; MENTAL RETARDATION
• BORK (1987) - ECTODERMAL DYSPLASIA; CATARACT; RETINAL DYSTROPHY
• BOROCHOWITZ (1991) - MICROMELIC DYSPLASIA; RADIUS DISLOCATION; DISTINCT FACE
• BOWEN SYNDROME - GLAUCOMA; FLEXION CONTRACTURES OF FINGERS
• BOWEN-ARMSTRONG - CLEFTING; MENTAL RETARDATION; ECTODERMAL DYSPLASIA
• BOWEN-CONRADI SYNDROME
• BRACERO (1988) - CLOVER-LEAF SKULL; PRUNE BELLY
• BRACHIAL PALSY, FAMILIAL CONGENITAL
• BRACHIAL PLEXUS NEURITIS-CLEFT PALATE-DYSMORPHIC FACIES
• BRACHYDACTYLY (PRE-AXIAL) - HALLUX VARUS; THUMB ABDUCTION
• BRACHYDACTYLY - HYPOPLASTIC 2ND METACARPAL TYPE
• BRACHYDACTYLY TYPE A1
• BRACHYDACTYLY TYPE A2
• BRACHYDACTYLY TYPE A4
• BRACHYDACTYLY TYPE A7 (SMORGASBORD)
• BRACHYDACTYLY TYPE B
• BRACHYDACTYLY TYPE BALLARD
• BRACHYDACTYLY TYPE C
• BRACHYDACTYLY TYPE C (AUTOSOMAL RECESSIVE)
• BRACHYDACTYLY TYPE D PLUS SHORT 4TH METATARSALS
• BRACHYDACTYLY TYPE E
• BRACHYDACTYLY TYPE E WITH ATRIAL SEPTAL DEFECT                                                  
• BRACHYDACTYLY TYPE SUGARMAN - SHORT PROXIMAL PHALANGES AND 1ST METACARPALS
• BRACHYDACTYLY-CRANIOSTENOSIS-SYMPHALANGISM
• BRACHYDACTYLY-NAIL DYSPLASIA (HEREDITARY)
• BRACHYDACTYLY-SYMPHALANGISM
• BRACHYOLMIA
• BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA
• BRADDOCK (1993) - SAGITTAL CRANIOSYNOSTOSIS; DANDY-WALKER MALFORMATION
• BRADDOCK-CAREY - THROMBOCYTOPENIA; ROBIN SEQUENCE; CORPUS CALLOSUM AGENESIS
• BRAHIMI (1988) - ACRO-MESOMELIC-LIKE DYSPLASIA
• BRANCHIO-OCULO-FACIAL SYNDROME (HAEMANGIOMATOUS BRANCHIAL CLEFTS)
• BRANCHIO-OTO DYSPLASIA
• BRANCHIO-OTO-RENAL (BOR) SYNDROME
• BRANCHIO-OTO-URETERAL SYNDROME (BOU)
• BRAUN (1962) - NEPHROSIS; DEAFNESS; BRACHYTELEPHALANGY
• BRITTLE CORNEA-BLUE SCLERA-JOINT HYPEREXTENSIBILITY
• BRONSPIEGEL (1985) - APLASIA CUTIS CONGENITA; INTESTINAL LYMPHANGIECTASIA
• BROOKS (1994) - X-LINKED MR; DISTINCTIVE FACE; GROWTH RETARDATION
• BROSNAN (1980) - XY GONADAL DYSGENESIS PLUS OTHER ANOMALIES
• BRUCK SYNDROME - OSTEOGENESIS IMPERFECTA; CONTRACTURES
• BUCKLEY - STAPHYLOCOCCAL INFECTIONS; ECZEMA; HYPER IGE                        
• BUNDEY (1977) - MICROCEPHALY; MYOCLONUS; SPASTICITY
• BUNTINX-BARAITSER - SINGLE MAXILLARY INCISOR; ECTODERMAL DYSPLASIA
• BURCK (1982) - MESOMELIC DYSPLASIA; PUNCTATE CALCIFICATIONS
• BURKE (1988) - ADRENAL HYPOPLASIA; ABSENT PITUITARY LUTEINIZING HORMONE
• BURN (1992) - CHOANAL ATRESIA; CARDIAC DEFECTS; DEAFNESS
• BURTON (1981) - DOMINANT MICROCEPHALY; SHORT STATURE
• BUTTIENS (1987) - DISTAL LIMB DEFICIENCIES; RENAL DEFECT; MR
• BUTTIENS (1989) - FACIAL DYSMORPHISM; DANDY-WALKER
• C SYNDROME          
• CAFFEY (INFANTILE CORTICAL HYPEROSTOSIS)
• CALCIFICATION OF THE CENTRAL NERVOUS SYSTEM-OPTIC ATROPHY-DEAFNESS
• CAMERA (1994) - X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA
• CAMPTOBRACHYDACTYLY
• CAMPTODACTYLY TYPE TEL HASHOMER
• CAMPTODACTYLY-ARTHRITIS
• CAMPTODACTYLY-ARTHRITIS-PERICARDITIS (CAP)
• CAMPTODACTYLY-SYMPHALANGISM
• CAMPTOMELIC DYSPLASIA
• CAMURATI-ENGELMANN (PROGRESSIVE DIAPHYSEAL DYSPLASIA)
• CANAVAN (SPONGY DEGENERATION OF THE BRAIN)
• CANTU (1978) - MALFORMED EARS; DEAFNESS; MENTAL RETARDATION
• CAO (1977) - AGENESIS OF CORPUS CALLOSUM; MICROCEPHALY
• CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
• CARBONIC ANHYDRASE II DEFICIENCY (MARBLE BRAIN DISEASE)
• CAREY-FINEMAN-ZITER SYNDROME
• CARNEVALE (1980) - TRIPHALANGEAL THUMBS; BRACHYECTRODACTYLY
• CARPAL HYPOPLASIA/DYSPLASIA (X-LINKED)
• CARPENTER - ACROCEPHALOPOLYSYNDACTYLY TYPE II
• CARPOTARSAL OSTEOCHONDROMATOSIS
• CASTRO-GAGO (1993) - OPTIC ATROPHY; CORPUS CALLOSUM AGENESIS;HETEROTOPIAS
• CATARACT (X-LINKED)
• CATARACT-MICROCORNEA (AUTOSOMAL DOMINANT)                                              
• CATARACT-MICROCORNEA (X-LINKED)
• CATARACT-SENSORINEURAL DEAFNESS
• CATEL-MANZKE - CLEFT PALATE; ACCESSORY METACARPAL
• CAUDAL DUPLICATION SYNDROME
• CAUDAL REGRESSION
• CENANI-LENZ - OLIGODACTYLY; SYNOSTOSIS
• CENTRIFUGAL LIPODYSTROPHY
• CENTRONUCLEAR MYOPATHY, FAMILIAL
• CEREBELLAR HYPOPLASIA-ENDOSTEAL SCLEROSIS
• CEREBELLAR HYPOPLASIA-LYMPHOEDEMA-NEURONAL MIGRATION DEFECT
• CEREBELLAR VERMIS APLASIA (FAMILIAL)
• CEREBRO-CEREBELLAR LISSENCEPHALY
• CEREBRO-COSTO-MANDIBULAR SYNDROME
• CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME
• CEREBRO-OCULO-HEPATO-RENAL SYNDROME
• CEREBRO-OCULO-MUSCULAR SYNDROME (COMS)
• CEREBRO-OCULO-NASAL SYNDROME
• CEREBROARTHRODIGITAL SYNDROME
• CEREBROTENDINOUS XANTHOMATOSIS (CTX)
• CEROID-LIPOFUSCINOSIS (CONGENITAL)
• CERVICAL RIBS-SPRENGEL ANOMALY-PREAXIAL POLYDACTYLY
• CHALLIS (1974) - TALONAVICULAR FUSION
• CHAR (1978) - PTOSIS; 'DUCK-BILL LIPS'; SHORT PHILTRUM
• CHARGE ASSOCIATION
• CHEDIAK-HIGASHI SYNDROME                                                                            
• CHEIROLUMBAR DYSOSTOSIS
• CHERUBISM
• CHIBA (1979) - THUMB DEFORMITY; ALOPECIA
• CHILD - LIMB REDUCTION; ICHTHYOSIS
• CHITTY (1993) - BOWED TIBIAE; RADIAL ANOMALIES; OSTEOPENIA; FRACTURES
• CHITTY (1993) - BOWED TIBIAE; RADIAL ANOMALIES; OSTEOPENIA;FRACTURES
• CHOANAL ATRESIA-LYMPHOEDEMA
• CHOLESTEROL ESTER STORAGE DISEASE (CESD)
• CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)
• CHONDRODYSPLASIA PUNCTATA, HUMERO-METACARPAL TYPE
• CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC (AUTOSOMAL RECESSIVE)
• CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE
• CHOREA-ACANTHOCYTOSIS (NEUROACANTHOCYTOSIS)
• CHRISTIAN (1971) - ADDUCTED THUMBS SYNDROME
• CHRISTIAN (1977) - SKELETAL DYSPLASIA; MENTAL RETARDATION (X-LINKED)
• CHRONIC IDIOPATHIC INTESTINAL PSEUDO-OBSTRUCTION
• CHUDLEY (1988) - MENTAL RETARDATION; SHORT STATURE; OBESITY; HYPOGONADISM
• CHYLOTHORAX - RECURRENT, CONGENITAL
• CHYLOUS ASCITES
• CITRULLINEMIA-PILI TORTI
• CLAVICLE PSEUDARTHROSIS
• CLEFT LIP OR PALATE-FILIFORM FUSION OF EYELIDS
• CLEFT LIP/PALATE-ECTRODACTYLY
• CLEFT LIP/PALATE-LAGOPHTHALMOS-ECTROPION-DISTICHIASIS                            
• CLEFT PALATE (X-LINKED)
• CLEFT PALATE-LATERAL ORAL SYNECHIAE
• CLEFTING-COLOBOMA OF CHOROID-MENTAL RETARDATION
• CLEIDOCRANIAL DYSOSTOSIS
• CLOUSTON - HIDROTIC ECTODERMAL DYSPLASIA
• COARCTATION OF THE AORTA (AUTOSOMAL DOMINANT)
• COBB - CUTANEOMENINGOSPINAL ANGIOMATOSIS
• COCKAYNE SYNDROME
• COCKEL (1973) - STEATORRHOEA; BASAL GANGLIA CALCIFICATION; MR
• CODAS - CEREBRAL-OCULAR-DENTAL-AURICULAR-SKELETAL SYNDROME
• COELIAC DISEASE-FOLIC ACID DEFICIENCY-EPILEPSY-CALCIFICATIONS
• COFFIN-LOWRY SYNDROME
• COFFIN-SIRIS SYNDROME
• COHEN SYNDROME
• COLOBOMA-LOOSE ANAGEN SYNDROME
• COLOBOMAS-BRACHYDACTYLY (TYPE SORSBY)
• COLOBOMAS-CLEFTING-MENTAL RETARDATION
• COLOBOMATOUS MICROPHTHALMIA (AUTOSOMAL RECESSIVE)
• COMBARROS (1988) - ATAXIA; GLAUCOMA
• COMBINED IMMUNODEFICIENCY-GROWTH HORMONE DEFICIENCY
• CONGENITAL CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT)
• CONGENITAL MIOSIS WITH MEGALOCORNEA
• CONGENITAL MUSCULAR DYSTROPHY, TYPE FUKUYAMA                                              
• CONGENITAL SHORT GUT-MALROTATION-DYSMOTILITY OF THE SMALL BOWEL
• CONLEY (1986) - CHROMOSOMAL INSTABILITY DISORDER
• CONNATAL PELIZAEUS-MERZBACHER
• CONOTRUNCAL MALFORMATIONS (AUTOSOMAL RECESSIVE)
• CONRADI CHONDRODYSPLASIA PUNCTATA (AUTOSOMAL AND X-LINKED DOMINANT)
• CONTRACTURAL ARACHNODACTYLY (BEAL'S)
• CONTRACTURE OF THE SHOULDERS AND HIPS SECONDARY TO FIBROUS BANDS
• CORNEA PLANA
• CORNEL (1987) - AORTIC COARCTATION; PTOSIS
• CORPUS CALLOSUM AGENESIS
• COSTELLO (1977) - NOONAN-LIKE SYNDROME WITH NASAL PAPILLOMATA
• COUCH (1986) - ADOLESCENT MULTINODULAR GOITER
• COWDEN - MULTIPLE HAMARTOMAS
• COX (1980) - JUVENILE POLYPOSIS; PULMONARY AV MALFORMATION
• COXO-AURICULAR SYNDROME
• CRANIODIAPHYSEAL DYSPLASIA
• CRANIODIAPHYSEAL DYSPLASIA (AUTOSOMAL DOMINANT)
• CRANIOECTODERMAL DYSPLASIA
• CRANIOFRONTONASAL DYSPLASIA
• CRANIOMETAPHYSEAL DYSPLASIA
• CRANIOSYNOSTOSIS, ADELAIDE TYPE
• CRANIOSYNOSTOSIS-BRACHYDACTYLY
• CRANIOTELENCEPHALIC DYSPLASIA
• CREE - MICROCEPHALY; MICROMELIA                                                                            
• CROSS - OCULOCEREBRAL-HYPOPIGMENTATION SYNDROME
• CROUZON (CRANIOFACIAL DYSOSTOSIS)
• CRYPTOPHTHALMOS WITH OCULAR ANOMALIES
• CURATOLO (1993) - WHITE MATTER HYPOPLASIA; AGENESIS OF THE CORPUS CALLOSUM
• CURLY HAIR-ANKYLOBLEPHARON-NAIL DYSPLASIA SYNDROME (CHANDS)
• CURRARINO TRIAD - ANAL ATRESIA; SACRAL ANOMALIES; PRESACRAL MASS (ASP)
• CURRY-JONES SYNDROME
• CUTIS LAXA (AUTOSOMAL DOMINANT)
• CUTIS LAXA (AUTOSOMAL RECESSIVE) TYPE I
• CUTIS LAXA-MENTAL AND PHYSICAL RETARDATION
• CUTIS MARMORATA TELANGIECTASIA CONGENITA
• CUTIS VERTICIS GYRATA-ACROMEGALOID APPEARANCE-LEUKOMA
• CUTIS VERTICIS GYRATA-MENTAL RETARDATION
• CYLINDROMATOSIS (TURBAN TUMOURS)
• CYSTINOSIS
• CZEIZEL - SPLIT HAND; URINARY ANOMALIES; SPINA BIFIDA/DIAPHRAGM DEFECTS
• DA-SILVA (1988) - CALLOSAL DEFECT; MICROCEPHALY; MR; CAMPTODACTYLY    
• DANDY-WALKER MALFORMATION
• DANDY-WALKER MALFORMATION (X-LINKED)
• DANKS (1974) - AUTOSOMAL RECESSIVE TYPE OF OSTEODYSPLASTY
• DANON (1981) - CARDIOMYOPATHY; MENTAL RETARDATION; AUTOPHAGIC MYOPATHY
• DAPPLED DIAPHYSEAL DYSPLASIA
• DAVID-WINTER - ABSENCE OF PECTORAL/SHOULDER GIRDLE MUSCLES
• DE BARSY - CUTIS LAXA; MENTAL RETARDATION; CORNEAL OPACITY
• DE LA CHAPELLE - NEONATAL OSSEOUS DYSPLASIA
• DE LANGE SYNDROME
• DEAFNESS-ALBINISM
• DEAFNESS-ARTHROGRYPOSIS
• DEAFNESS-ATAXIA-PIEBALDISM
• DEAFNESS-ATRESIA OF AUDITORY CANAL
• DEAFNESS-HYPODONTIA
• DEAFNESS-ICHTHYOSIS
• DEAFNESS-LEUKONYCHIA-KNUCKLE PADS
• DEAFNESS-LIPODYSTROPHY-BONE CYSTS
• DEAFNESS-LOP EARS
• DEAFNESS-MALFORMED, LOW-SET EARS                                                                      
• DEAFNESS-MICROTIA-MEATAL ATRESIA
• DEAFNESS-ONYCHODYSTROPHY-ONYCHOLYSIS-RETARDATION (DOOR)
• DEAFNESS-ONYCHODYSTROPHY-TRIPHALANGEAL THUMBS
• DEAFNESS-OPTIC ATROPHY
• DEAFNESS-OPTIC ATROPHY-DEMENTIA (DOAD)
• DEAFNESS-PALMOPLANTAR HYPERKERATOSIS
• DEAFNESS-PILI TORTI
• DEAFNESS-PREAURICULAR SINUS-COMMISSURAL LIP PITS
• DEAFNESS-RENAL TUBULAR ACIDOSIS
• DENTINOGENESIS IMPERFECTA
• DERMO-CHONDRO-CORNEAL DYSTROPHY OF FRANCOIS
• DESBUQUOIS (1966) - CHONDRODYSTROPHY; ADVANCED BONE AGE
• DEVI (1995) - HYDROCEPHALUS; ENDOCARDIAL FIBROELASTOSIS; CATARACT
• DEXTROCARDIA WITH ASSOCIATED HEART DEFECTS
• DIABETES AND DEAFNESS ASSOCIATED WITH A MITOCHONDRIAL DNA MUTATION
• DIABETES INSIPIDUS-DIABETES MELLITUS-OPTIC ATROPHY-DEAFNESS (DIDMOAD)
• DIAPHRAGM DEFECTS - FAMILIAL CONGENITAL
• DIAPHRAGMATIC HERNIA (X-LINKED RECESSIVE)
• DIAPHRAGMATIC HERNIA-LIMB ANOMALIES                                                    
• DIASTROPHIC DYSPLASIA
• DIFFUSE CORTICAL DYSPLASIA
• DIGEORGE SYNDROME
• DIGITO-TALAR DYSMORPHISM
• DINNO (1979) - PSEUDOMARFANOID SYNDROME
• DISLOCATED HIPS AND RADIAL HEADS-CARPAL COALITION-SHORT STATURE
• DISORGANISATION-LIKE SYNDROME
• DISSEMINATED HAEMANGIOMATOSIS
• DISTAL ARTHROGRYPOSIS
• DISTAL SYMPHALANGISM
• DISTICHIASIS-LYMPHOEDEMA
• DK-PHOCOMELIA (WITH ENCEPHALOCELE AND THROMBOCYTOPENIA)
• DONNAI (1992) - CLEFT LIP AND PALATE; ECTODERMAL DYSPLASIA
• DONNAI-BARROW - DIAPHRAGMATIC HERNIA; EXOMPHALOS; ABSENT CORPUS CALLOSUM
• DOS SANTOS (1991) - X-LINKED MR; HIP LUXATION; PRECOCIOUS PUBERTY
• DOUBLE VAGINA WITH CARDIAC, PULMONARY AND GENITAL MALFORMATIONS
• DRASH - NEPHRITIS; PSEUDOHERMAPHRODITISM; WILMS' TUMOUR
• DU PAN - BRACHYDACTYLY; FIBULAR APLASIA
• DUANE ANOMALY
• DUANE ANOMALY-RADIAL DEFECTS
• DUBOWITZ SYNDROME
• DUODENAL ATRESIA (FAMILIAL)
• DUPLICATION OF LOWER LIMB-AGENESIS OF KIDNEY
• DWARFISM-IMMUNODEFICIENCY TYPE 1
• DWARFISM-IMMUNODEFICIENCY TYPE 3 (AMMAN)
• DYGGVE-MELCHIOR-CLAUSEN SYNDROME
• DYSKERATOSIS CONGENITA
• DYSOSTEOSCLEROSIS
• DYSPLASIA EPIPHYSEALIS HEMIMELICA (TREVOR)
• DYSPLASTIC NEVUS SYNDROME
• DYSSPONDYLOCHONDROMATOSIS
• EBSTEIN ANOMALY (FAMILIAL)                                                                                 
• ECHENNE (1984) - MUSCULAR DYSTROPHY; WHITE MATTER SPONGIOSIS
• ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE)
• ECTODERMAL DYSPLASIA - X-LINKED HYPOHIDROTIC TYPE
• ECTODERMAL DYSPLASIA-SYNDACTYLY
• ECTOPIA CORDIS-CLEFT LIP/PALATE
• ECTOPIA LENTIS - ISOLATED
• ECTOPIA LENTIS ET PUPILLAE
• ECTRODACTYLY (AUTOSOMAL DOMINANT)
• ECTRODACTYLY (AUTOSOMAL RECESSIVE)
• ECTRODACTYLY (X-LINKED RECESSIVE)
• ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING (EEC)
• ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING-SCALP DEFECTS
• ECTRODACTYLY-ECTODERMAL DYSPLASIA-MACULAR DYSTROPHY (EEM)
• ECTRODACTYLY-FIBULAR APLASIA/HYPOPLASIA (EFA)
• EDWARDS (1976) - PIGMENTARY RETINOPATHY; HYPOGONADISM; GLUCOSE INTOLERANCE
• EDWARDS (1984) - ANIRIDIA; MICROPHTHALMIA; MICROCEPHALY
• EDWARDS (1988) - X-LINKED ORO-FACIO-DIGITAL SYNDROME
• EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES          
• EHLERS-DANLOS SYNDROME
• EHLERS-DANLOS SYNDROME TYPE III
• EHLERS-DANLOS SYNDROME TYPE VI
• EHLERS-DANLOS SYNDROME TYPE VII
• EKBOM (1975) - ATAXIA; PHOTOMYOCLONUS; SKELETAL ANOMALIES; LIPOMA
• EL KHAZEN (1986) - LETHAL OSTEOPETROSIS
• ELEJALDE (1977) - ACROCEPHALOPOLYDACTYLOUS DYSPLASIA
• ELEJALDE - NEUROECTODERMAL MELANOLYSOSOMAL DISEASE
• ELLIS-VAN CREVELD SYNDROME
• EMANUEL (1967) - ABSENCE OF SMALL BOWEL MUSCLE
• EMERY-DREIFUSS MUSCULAR DYSTROPHY
• EMPTY SELLA TURCICA
• EMPTY SELLA-RIEGER'S ANOMALY
• ENCEPHALOCELE-RADIAL, CARDIAC, GASTROINTESTINAL, ANAL AND RENAL ANOMALIES
• ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
• ENCHONDROMATOSIS, GENERALISED
• ENCHONDROMATOSIS-VERTEBRAL ANOMALIES
• EPIDERMOLYSIS BULLOSA-MUSCULAR DYSTROPHY
• EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA
• EPIDERMOLYTIC HYPERKERATOSIS
• EPSTEIN (1972) - PLATELET ABNORMALITIES; NEPHRITIS; DEAFNESS
• ERMINE PHENOTYPE
• ESSENTIAL TREMOR-NYSTAGMUS-DUODENAL ULCERATION
• EXSTROPHY OF THE BLADDER
• FABRY (ANGIOKERATOMA CORPORIS DIFFUSUM)            
• FACIOSCAPULOHUMERAL DYSTROPHY-DEAFNESS-COATS SYNDROME
• FALACE (1988) - ECTODERMAL DYSP; SYNDACTYLY; CLEFT LIP/PALATE; SHORT STATURE
• FALLOT TETRALOGY - FAMILIAL
• FAMILIAL CAVERNOUS MALFORMATIONS OF THE CENTRAL NERVOUS SYSTEM AND RETINA
• FAMILIAL CERVICAL DYSPLASIA
• FANCONI PANCYTOPENIA
• FARAG (1990) - HYPERTELORISM; HYPOSPADIAS; TETRALOGY OF FALLOT
• FARBER - LIPOGRANULOMATOSIS
• FEINGOLD (1975) - MICROCEPHALY; ABNORMAL HANDS; TRACHEO-OESOPHAGEAL ATRESIA
• FEMORAL DUPLICATION
• FEMORAL HYPOPLASIA-UNUSUAL FACIES
• FEMUR-FIBULA-ULNA COMPLEX (FFU SYNDROME)
• FEMUR-FIBULA-ULNA SYNDROME (POSSIBLE AUTOSOMAL RECESSIVE)
• FENICHEL (1982) - HUMEROPELVIC MUSCULAR DYSTROPHY; CARDIOMYOPATHY
• FETAL VITAMIN A SYNDROME
• FG SYNDROME (OPITZ AND KAVEGGIA)
• FIBROCHONDROGENESIS
• FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP)
• FIBROMATOSIS, GENERALISED (INFANTILE MYOFIBROMATOSIS)
• FIBROSIS OF THE EXTRAOCULAR MUSCLES, CONGENITAL
• FIBULA DIMELIA-POLYDACTYLY                                                                                  
• FIBULAR APLASIA-OLIGODACTYLY-CAMPTOMELIA
• FIBULAR APLASIA/HYPOPLASIA
• FIFTH-ARCH SYNDROME
• FIGUERA (1993) - ORAL-FACIAL-DIGITAL SYNDROME; FIBULAR APLASIA
• FILIPPI (1985) - MICROCEPHALY; SYNDACTYLY
• FINLAY-MARKS - SCALP TUMOURS; DYSPLASTIC EARS; NIPPLE HYPOPLASIA
• FISCHER - HYPERKERATOSIS; SYRINGOMYELIA
• FITZSIMMONS (1988) - SPASTICITY; SENSORINEURAL DEAFNESS; NEPHROPATHY; MR
• FITZSIMMONS - SPASTIC PARAPLEGIA; BRACHYDACTYLY; CONE-SHAPED EPIPHYSES
• FLOATING-HARBOR - SHORT STATURE; DELAYED BONE AGE; BROAD NOSE
• FLYNN-AIRD - DEAFNESS; PERIPHERAL NEUROPATHY; MYOPIA; SKELETAL ANOMALIES
• FOCAL NODULAR HYPERPLASIA OF THE LIVER-VASCULAR MALFORMATIONS
• FORNEY (1966) - DEAFNESS; MITRAL INCOMPETENCE; JOINT FUSION
• FOUNTAIN (1974) - DEAFNESS; SKIN GRANULOMA; SKELETAL DYSPLASIA
• FOURNIER (1963) - NEPHROTIC SYNDROME; PULMONARY STENOSIS
• FRAGILE X-LINKED MENTAL RETARDATION
• FRANCESCHETTI (1965) - MICROPHTHALMIA; MACROPHAKIA; TAPETORETINAL DEGEN
• FRASER - CRYPTOPHTHALMOS SYNDROME
• FRASIER (1964) - RENAL FAILURE; XY GONADAL DYSGENESIS
• FRAXE MENTAL RETARDATION
• FREE SIALURIA-PROGRESSIVE NEUROLOGICAL DETERIORATION                              
• FREEMAN-SHELDON (WHISTLING FACE)
• FRIAS (1974) - IPSILATERAL ABSENCE OF RADIUS, PECTORALIS MAJOR,AND LUNG
• FRONTO-FACIO-NASAL DYSPLASIA
• FRONTO-METAPHYSEAL DYSPLASIA (GORLIN)
• FRONTONASAL DYSPLASIA
• FROSTER-ISKENIUS (1988) - CONTRACTURES; TORTICOLLIS; HYPERTHERMIA
• FRYNS - ACRAL DEFECTS; CLOUDY CORNEAE; DIAPHRAGMATIC DEFECTS
• FUCOSIDOSIS
• FUHRMANN (1980) - POLY/SYN/OLIGODACTYLY; BOWED FEMORA; FIBULAR HYPOPLASIA
• FULLANA (1986) - CAUDAL DEFICIENCY; ASPLENIA
• FUMARASE DEFICIENCY
• FURLONG (1987) - MARFANOID SYNDROME WITH CRANIOSYNOSTOSIS
• FUSIONS OF METACARPALS 4 AND 5 (X-LINKED RECESSIVE)
• G (OPITZ-FRIAS) SYNDROME              
• GALACTOSIALIDOSIS - NEURAMINIDASE AND BETA-GALACTOSIDASE DEFICIENCY
• GARDNER SYNDROME
• GASTROSCHISIS
• GAUCHER DISEASE TYPE I (ADULT TYPE)
• GAUCHER DISEASE, NEONATAL
• GAY (1981) - LARYNGEAL WEB; SHORT STATURE; CONGENITAL HEART DISEASE
• GEDEON (1991) - X-LINKED MENTAL RETARDATION
• GELEOPHYSIC DYSPLASIA
• GERODERMIA OSTEODYSPLASTICA (BAMATTER SYNDROME)
• GIANT AXONAL NEUROPATHY
• GIBBS (1966) - DEAFNESS; HYPERKERATOSIS; CONSTRICTION RINGS
• GILLESPIE - ANIRIDIA; ATAXIA; MENTAL RETARDATION
• GILLESSEN-KAESBACH - POLYCYSTIC KIDNEYS; MICROCEPHALY; BRACHYMELIA;CHD
• GINGIVAL FIBROMATOSIS
• GINGIVAL FIBROMATOSIS-GROWTH HORMONE DEFICIENCY
• GIROUX (1972) - ERYTHROKERATODERMIA; ATAXIA
• GIUFFRE (1994) - MICROCEPHALY; RADIO-ULNAR SYNOSTOSIS (AUTOSOMAL DOMINANT)
• GLASS (1994) - EAR ANOMALIES; CLEFTING; LIMB REDUCTION DEFECTS
• GLOMERULOCYSTIC KIDNEYS - FAMILIAL HYPOPLASTIC
• GLUCOCORTICOID DEFICIENCY-ACHALASIA-DEFICIENT TEAR PRODUCTION
• GLUTARIC ACIDURIA TYPE 1                                                                                      
• GLUTARIC ACIDURIA TYPE 2
• GM1 (GENERALISED GANGLIOSIDOSIS TYPE 1)
• GOEMINNE (1968) - TORTICOLLIS; KELOIDS; CRYPTORCHIDISM (X-LINKED RECESSIVE)
• GOLDBERG (1986) - HAEMANGIOMAS PLUS OTHER ANOMALIES
• GOLDBLATT (1989) - X-LINKED SPASTIC PARAPLEGIA; MR; OPTIC ATROPHY
• GOLDBLATT-VILJOEN - RADIAL RAY HYPOPLASIA
• GOLDENHAR (FACIO-AURICULO-VERTEBRAL) SYNDROME/HEMIFACIAL MICROSOMIA
• GOLLOP (1980) - MONODACTYLOUS ECTRODACTYLY; SPLIT FEMUR
• GOLTZ (FOCAL DERMAL HYPOPLASIA)
• GORDON (1976) - RETINITIS PIGMENTOSA; QUADRIPARESIS; MR;HEARING LOSS
• GORDON - CLEFTING; CAMPTODACTYLY; CLUB FOOT
• GORHAM - MASSIVE OSTEOLYSIS AND ANGIOMATOSIS
• GORLIN (1971) - CLEFT PALATE; OLIGODONTIA; STAPES FIXATION;CARPAL ANOMALIES
• GORLIN-CHAUDHRY-MOSS SYNDROME
• GRANT SYNDROME - WORMIAN BONES; BLUE SCLERAE; CAMPOMELIA
• GREBE SYNDROME
• GREIG - DIGITAL ANOMALIES; MACROCEPHALY
• GRISCELLI (1978) - CHEDIAK-HIGASHI-LIKE SYNDROME
• GROLL-HIRSCHOWITZ - DEAFNESS; GASTROINTESTINAL AND NEUROLOGIC ANOMALIES
• GROWTH RETARDATION-ALOPECIA-PSEUDOANODONTIA-OPTIC ATROPHY (GAPO)
• GUIZAR-VAZQUEZ (1981) - CORNEAL DERMOIDS; SHORT STATURE
• GUM/JAW FUSION (SYNGNATHIA)
• GUSTAVSON (1993) - X-LINKED MR; BLINDNESS; DEAFNESS; SEIZURES; SPASTICITY
• GYRATE ATROPHY OF CHOROID AND RETINA
• HAAS TYPE POLYSYNDACTYLY                                                                         
• HAEMANGIOMAS-COARCTATION OF THE AORTA
• HAEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL
• HAJDU-CHENEY (ACRO-OSTEOLYSIS)
• HALAL (1986) - UPPER LIMB HYPOPLASIA; MULLERIAN DUCT ANOMALIES
• HALLERMANN-STREIFF - OCULO-MANDIBULO-DYSCEPHALY; HYPOTRICHOSIS
• HALLERVORDEN-SPATZ SYNDROME
• HALLGREN (1959) - RETINITIS PIGMENTOSA; DEAFNESS; ATAXIA;CATARACTS
• HAMEL (1994) - X-LINKED MENTAL RETARDATION; CONGENITAL HEART DEFECTS
• HAND-FOOT-UTERUS SYNDROME
• HANHART (1947) - PALMOPLANTAR KERATOSIS; LIPOMAS
• HARBOYAN (1971) - DEAFNESS; CORNEAL DYSTROPHY
• HARLEQUIN BABY - ERYTHEMA; ICHTHYOSIS; ECTROPION OF EYELIDS
• HAUPTMANN-THANNHAUSER - MUSCULAR DYSTROPHY; CONTRACTURES;CARDIOMYOPATHY
• HAY-WELLS - ANKYLOBLEPHARON; ECTODERMAL DEFECTS; CLEFT LIP AND PALATE
• HEART-HAND TYPE 2 (TABATZNIK)
• HEART-HAND TYPE 3
• HEART-HAND TYPE 4 - WITH MESOAXIAL HEXADACTYLY
• HEGDE (1982) - APLASIA OF PECTORALIS MAJOR; RENAL ANOMALIES
• HEMIFACIAL MICROSOMIA-RADIAL DEFECTS
• HEMIHYPERPLASIA, ISOLATED
• HEMIHYPERTROPHY-INTESTINAL WEB-PREAURICULAR TAGS-CORNEAL OPACITY (HIPO)
• HEMIMEGALENCEPHALY - CEREBRAL ASYMMETRY; CORTICAL DYSPLASIA
• HENNEKAM (1989) - INTESTINAL LYMPHANGIECTASIA; LYMPHOEDEMA; FACIAL ANOMALIES
• HEPATOERYTHROPOIETIC PORPHYRIA
• HEREDITARY HYPOTRICHOSIS SIMPLEX
• HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DEAFNESS
• HEREDITARY SENSORY NEUROPATHY TYPE II
• HERMANSKY-PUDLAK SYNDROME
• HERMAPHRODITISM - FAMILIAL TRUE (ARMENDARES)                                              
• HERNANDEZ (1985) - CORTICAL BLINDNESS; POLYDACTYLY; MENTAL RETARDATION
• HIRSCHSPRUNG DISEASE (FAMILIAL)
• HIRSCHSPRUNG DISEASE WITH WAARDENBURG SYNDROME FEATURES
• HIRSCHSPRUNG DISEASE-CLEFT PALATE-MENTAL RETARDATION
• HIRSCHSPRUNG DISEASE-SENSORINEURAL DEAFNESS
• HISTIOCYTIC DERMATOARTHRITIS
• HISTIOCYTOSIS - FAMILIAL
• HOLLISTER (1981) - LONG THUMBS; BRACHYDACTYLY; SHORT STATURE
• HOLMES (1984) - X-LINKED MENTAL RETARDATION; MICROCEPHALY;CLUB FOOT
• HOLOPROSENCEPHALY
• HOLOPROSENCEPHALY-HYPOTHALAMIC HAMARTOBLASTOMA
• HOLT-ORAM SYNDROME
• HOMOCYSTINURIA
• HUBERT-TOYAMA - FAMILIAL RIGHT THORACIC STOMACH
• HUMERO-RADIAL SYNOSTOSIS
• HUNTER (1987) - PRENATAL NEUROAXONAL DYSTROPHY; PERIPHERAL GANGRENE
• HUNTER (MUCOPOLYSACCHARIDOSIS TYPE II)
• HUNTER-MCALPINE - MICROCEPHALY; CRANIOSTENOSIS; ACRAL ANOMALIES
• HURLER (MUCOPOLYSACCHARIDOSIS TYPE IH)
• HURST (1988A) - SHORT STATURE; CRANIOSYNOSTOSIS; SKELETAL AND EAR ANOMALIES
• HURST (1988B) - HIRSCHSPRUNG; MICROCEPHALY; IRIS COLOBOMA
• HUTTERITE MANDIBULOFACIAL DYSOSTOSIS
• HYDRANENCEPHALY
• HYDROCEPHALY WITH FEATURES OF VATER
• HYDROLETHALUS SYNDROME
• HYPER-IGE SYNDROME WITH CRANIOSYNOSTOSIS
• HYPERKERATOSIS OF GUM AND PALM
• HYPEROSTOSIS (WORTH)
• HYPEROSTOSIS CRANIALIS INTERNA                                                                        
• HYPERPARATHYROIDISM, NEONATAL FAMILIAL
• HYPERPARATHYROIDISM-MULTIPLE OSSIFYING JAW FIBROMAS
• HYPERPHOSPHATAEMIA-HYPEROSTOSIS
• HYPERPHOSPHATASIA-OSTEOECTASIA (HYPERPHOSPHATASEMIA)
• HYPERTELORISM-MICROTIA-CLEFTING
• HYPERTRICHOSIS UNIVERSALIS CONGENITA
• HYPERTRICHOSIS-GINGIVAL FIBROMATOSIS
• HYPERTRICHOSIS-GINGIVAL FIBROMATOSIS-MENTAL RETARDATION-SEIZURES
• HYPERTROPHIC CARDIOMYOPATHY - MITOCHONDRIAL
• HYPOCHONDROGENESIS
• HYPOCHONDROPLASIA
• HYPOGLOSSIA-HYPODACTYLY (INCLUDING OROMANDIBULAR-LIMB HYPOGENESIS)
• HYPOMELANOSIS OF ITO
• HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)
• HYPOPHOSPHATASIA
• HYPOPLASIA OF MAJOR SALIVARY AND LACRIMAL GLANDS
• I-CELL DISEASE (MUCOLIPIDOSIS TYPE II)                                                                        
• ICHTHYOSIS-HYPOGONADISM-MENTAL RETARDATION (X-LINKED)
• ICHTHYOSIS-NEUTRAL LIPID STORAGE DISEASE
• INCONTINENTIA PIGMENTI
• INFANTILE ENCEPHALOPATHY WITH CEREBRAL CALCIFICATION AND LEUKODYSTROPHY
• INFANTILE ENCEPHALOPATHY WITH OLIVOPONTOCEREBELLAR HYPOPLASIA
• INFANTILE NEUROAXONAL DYSTROPHY (INAD OR SEITELBERGER'S DISEASE)
• INFANTILE REFSUM
• INFANTILE SPASM (X-LINKED RECESSIVE)
• INFANTILE SYSTEMIC HYALINOSIS
• INSLEY-ASTLEY - MARSHALL-STICKLER-LIKE SYNDROME (AUTOSOMAL RECESSIVE)
• INSULIN RESISTANCE-ACANTHOSIS NIGRICANS
• IRIS DYSPLASIA-HYPERTELORISM-MENTAL RETARDATION
• IVEMARK - ASPLENIA OR POLYSPLENIA
• JACKSON-WEISS (CEPHALO-SYNDACTYLY)                                                     
• JAFFE-CAMPANACCI - BONE FIBROMAS; CAFE AU LAIT SPOTS
• JALILI (1988) - CONE-ROD DYSTROPHY; AMELOGENESIS IMPERFECTA
• JANSEN - METAPHYSEAL DYSPLASIA
• JARCHO-LEVIN (SPONDYLOTHORACIC DYSPLASIA)
• JARMAS (1981) - MICROCEPHALY; FALCIFORM RETINAL FOLDS
• JEDELE (1990) - NON-SPECIFIC X-LINKED MENTAL RETARDATION
• JERVELL-LANGE-NIELSEN - DEAFNESS; CARDIAC CONDUCTION DEFECTS
• JESPERS (1993) - MIDLINE FIELD DEFECTS; HIRSCHSPRUNG DISEASE
• JEUNE (ASPHYXIATING THORACIC DYSTROPHY)
• JOHANSON-BLIZZARD SYNDROME
• JOHNSON (1971) - DOMINANT MICROSPHEROPHAKIA
• JONES (1977) - GINGIVAL FIBROMATOSIS; DEAFNESS
• JORGENSON (1983A) - MICROGNATHIA; SIMPLE EARS; SMALL TONGUE
• JOUBERT - CEREBELLAR VERMIS APLASIA PLUS OTHER ANOMALIES
• JUBERG-HAYWARD - CLEFTING; RADIAL DEFECTS; MENTAL RETARDATION
• JUVENILE POLYPOSIS
• KABUKI MAKE-UP SYNDROME                                                                 
• KALLMANN SYNDROME
• KANTAPUTRA (1992) - MESOMELIC DYSPLASIA
• KANTAPUTRA-GORLIN - DOUBLE DENS INVAGINATUS; MOLARIZED INCISORS;DEAFNESS
• KAPLAN (1983) - AGENESIS OF CORPUS CALLOSUM (X-LINKED RECESSIVE)
• KAPUR (1989) - PTOSIS; WIDOW'S PEAK (X-LINKED DOMINANT)
• KARTAGENER SYNDROME
• KAUFMAN-MCKUSICK - HYDROMETROCOLPOS; POLYDACTYLY; CONGENITAL HEART DISEASE
• KBG
• KEARNS-SAYRE SYNDROME
• KENNY-CAFFEY (TUBULAR STENOSIS)
• KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME (KID)
• KERATOSIS FOLLICULARIS SPINULOSA DECALVANS
• KERATOSIS FOLLICULARIS-SHORT STATURE-CEREBRAL ATROPHY
• KEUTEL (1972) - BRACHYTELEPHALANGY; PULMONARY STENOSIS; DEAFNESS
• KING-DENBOROUGH - DYSMORPHIC FEATURES; MYOPATHY; MALIGNANT HYPERTHERMIA
• KING-LEE (1987) - NATAL TEETH; STEATOCYSTOMA MULTIPLEX
• KINGSTON (1982) - UVEAL COLOBOMA; CLEFTING; MENTAL RETARDATION
• KIVLIN (1986) - PETERS' ANOMALY; SHORT STATURE; MENTAL RETARDATION
• KLEIN-WAARDENBURG SYNDROME
• KLIPPEL-TRENAUNAY-WEBER SYNDROME
• KNIEST SYNDROME
• KNIEST SYNDROME - SEVERE NEONATAL FORM
• KNOBLOCH-LAYER (1971) - DETACHED RETINA; ENCEPHALOCELE (AUTOSOMAL RECESSIVE)
• KOHLSCHUTTER (1974) - EPILEPSY; MENTAL RETARDATION; AMELOGENESIS IMPERFECTA
• KOHN (1995) - ULNA HYPOPLASIA; CLUB FEET; MENTAL RETARDATION
• KOTZOT (1994) - ALBINISM; IMMUNODEFICIENCY; HAEMATOLOGICAL ABNORMALITIES
• KOUSSEFF (1984) - SACRAL AND CONOTRUNCAL FIELD DEFECTS
• KOZLOWSKI (1988) - PRENATAL DWARFISM; ABNORMAL FACE; THINBONES;FRACTURES
• KRABBE - GLOBOID LEUKODYSTROPHY
• KRASNOW (1985) - CATARACTS; CARDIOMYOPATHY; ARTHROPATHY
• KYPHOMELIC DYSPLASIA
• LACRIMO-AURICULO-DENTO-DIGITAL (LADD) SYNDROME                                        
• LAMELLAR ICHTHYOSIS
• LANGER MESOMELIC DYSPLASIA
• LANGER-GIEDION (TRICHO-RHINO-PHALANGEAL) SYNDROME
• LARON DWARFISM
• LARSEN SYNDROME
• LAURIN-SANDROW SYNDROME (MIRROR HANDS AND FEET)
• LEBER AMAUROSIS
• LEBER'S HEREDITARY OPTIC NEUROPATHY (LHON)
• LEHMAN (1977) - OSTEOSCLEROSIS; ABNORMALITIES OF NERVOUS SYSTEM/MENINGES
• LEIBER (1982) - STERNAL CLEFTS; TELANGIECTASIA/HAEMANGIOMAS
• LEMIEUX-NEEMEH - DEAFNESS; NEUROPATHY; NEPHRITIS
• LENZ MICROPHTHALMIA
• LENZ-MAJEWSKI (HYPEROSTOTIC DWARFISM)
• LEOPARD SYNDROME
• LEPRECHAUNISM
• LERI-WEILL DYSCHONDROSTEOSIS
• LEROY MESOMELIA
• LESCH-NYHAN SYNDROME
• LETHAL METAPHYSEAL DYSPLASIA, TYPE SPRANGER-MAROTEAUX
• LEYDIG CELL HYPOPLASIA
• LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
• LINEAR SEBACEOUS NEVUS SYNDROME
• LIPODERMATOARTHRITIS
• LIPOID PROTEINOSIS (HYALINOSIS CUTIS ET MUCOSAE)                                        
• LIPOMATOSIS, MULTIPLE
• LIPOMATOSIS, SYMMETRICAL
• LOWE (OCULO-CEREBRO-RENAL) SYNDROME
• LOWER MESODERMAL DEFECTS
• LUBINSKY (1980) - FEMALE PSEUDOHERMAPHRODITISM; 'PRUNE BELLY'
• MACROCEPHALY - FAMILIAL                                                                                    
• MACROCEPHALY-SPASTIC PARAPLEGIA
• MAFFUCCI SYNDROME
• MAINZER-SALDINO - RETINAL DYSPLASIA; RENAL DEFECTS; SKELETAL ANOMALIES
• MANDIBULO-ACRAL DYSPLASIA
• MANDIBULOFACIAL DYSOSTOSIS (POSSIBLE X-LINKED RECESSIVE)
• MANNOSIDOSIS
• MARFAN SYNDROME
• MAROTEAUX-LAMY (MUCOPOLYSACCHARIDOSIS TYPE VI)
• MARSHALL-SMITH SYNDROME
• MARTINEZ-FRIAS (1994) - SCLEROCORNEA; HYPERTELORISM; SYNDACTYLY
• MARTINEZ-FRIAS (1995) - DISTAL APHALANGIA; SYNDACTYLY; MICROCEPHALY
• MASTOCYTOSIS
• MATHIAS (1987) - X-LINKED LATERALITY SEQUENCE
• MAUMENEE (1960) - CONGENITAL HEREDITARY CORNEAL OEDEMA
• MAXILLOFACIAL DYSOSTOSIS
• MCCUNE-ALBRIGHT - POLYOSTOTIC FIBROUS DYSPLASIA
• MCKUSICK - CARTILAGE-HAIR HYPOPLASIA (METAPHYSEAL DYSPLASIA)
• MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA)
• MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS
• MEIGE - LYMPHOEDEMA PRAECOX
• MELKERSSON-ROSENTHAL SYNDROME
• MELNICK-NEEDLES OSTEODYSPLASTY
• MELORHEOSTOSIS
• MENDENHALL (1950) - INSULIN RESISTANCE; PINEAL HYPERPLASIA
• MENINGOMYELOCELE AND CRANIUM BIFIDUM
• MENKES (KINKY HAIR) SYNDROME
• MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS (MASA)
• MENTAL RETARDATION-DEAFNESS-HYPOGENITALISM (X-LINKED)
• MEROANENCEPHALY
• METACHONDROMATOSIS
• METATROPIC DYSPLASIA
• MICHAUD (1995) - AUTOSOMAL RECESSIVE AMELIA
• MICHELS (1978) - CLEFTING; OCULAR ANOMALIES
• MICROCEPHALY-HIATUS HERNIA-NEPHROTIC SYNDROME                                  
• MICROGASTRIA-UPPER LIMB ANOMALIES
• MICROPHTHALMIA-CATARACT (AUTOSOMAL DOMINANT)
• MICROPHTHALMIA-CATARACT (AUTOSOMAL RECESSIVE)
• MICROPHTHALMOS (AUTOSOMAL DOMINANT)
• MICROPHTHALMOS-ORBITAL CYST
• MIETENS (1966) - CORNEAL OPACITY; ELBOW DISLOCATION; MENTAL RETARDATION
• MILES-CARPENTER - X-LINKED MR; FINGERTIP ARCHES; CONTRACTURES
• MILLER-DIEKER LISSENCEPHALY
• MILROY - HEREDITARY LYMPHOEDEMA
• MITOCHONDRIAL CYTOPATHY-DIABETES MELLITUS-ATAXIA-RENAL TUBULAR ABNORMALITIES
• MITRAL VALVE PROLAPSE
• MIURA (1984) - HYPOPLASTIC THUMBS AND HALLUCES
• MIXED SCLEROSING BONE DYSTROPHY
• MOEBIUS SEQUENCE-PERIPHERAL NEUROPATHY-HYPOGONADISM
• MOEBIUS SYNDROME (CONGENITAL FACIAL DIPLEGIA)                                                 
• MOHR-MAJEWSKI SYNDROME
• MONONEN (1992) - SKELETAL DYSPLASIA WITH BRACHYDACTYLY
• MOORE (1993) - LONG BONE BOWING; CRANIOSYNOSTOSIS
• MOORE-FEDERMAN SYNDROME
• MORNING GLORY SYNDROME-SPHENOETHMOIDAL ENCEPHALOCELE
• MORQUIO SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE IV)
• MORSE (1987) - HOLOPROSENCEPHALY; HYPOKINESIA
• MUCINOUS HISTIOCYTOSIS
• MUCKLE-WELLS - URTICARIA; DEAFNESS; AMYLOIDOSIS
• MUCOLIPIDOSIS TYPE III (PSEUDO-HURLER POLYDYSTROPHY)
• MUCOLIPIDOSIS TYPE IV
• MUCOPOLYSACCHARIDOSIS TYPE VII (BETA-GLUCURONIDASE DEFICIENCY)
• MUCOPOLYSACCHARIDOSIS TYPE VIII (DI FERRANTE)
• MULIBREY NANISM
• MULLER-WARMAN - AUTOSOMAL DOMINANT CRANIOSYNOSTOSIS
• MULLERIAN DUCT/RENAL APLASIA-CERVICOTHORACIC SOMITE DYSPLASIA (MURCS)
• MULTIPLE CARBOXYLASE DEFICIENCY (EARLY AND LATE)
• MULTIPLE CIRCUMFERENTIAL SKIN FOLDS
• MULTIPLE ENDOCRINE ADENOMATOSIS TYPE 2B
• MULTIPLE EPIPHYSEAL DYSPLASIA
• MULTIPLE EPIPHYSEAL DYSPLASIA-DIABETES MELLITUS (WOLCOTT-RALLISON SYNDROME)
• MULTIPLE EPIPHYSEAL DYSPLASIA-MICROCEPHALY-NYSTAGMUS
• MULTIPLE EXOSTOSES (DIAPHYSEAL ACLASIS)
• MULTIPLE GASTROINTESTINAL ATRESIAS
• MULTIPLE PTERYGIUM SYNDROME                                                                                          
• MULTIPLE PTERYGIUM SYNDROME (AUTOSOMAL DOMINANT)
• MULTIPLE PTERYGIUM SYNDROME (LETHAL)
• MULTIPLE SULFATASE DEFICIENCY
• MULVIHILL (1975) - PROGERIA-LIKE SYNDROME
• MURRAY-PURETIC SYNDROME (JUVENILE HYALINE FIBROMATOSIS)
• MUSCLE-EYE-BRAIN DISEASE (MEB)
• MYOPATHY WITH INCLUSIONS CONTAINING DESMIN
• MYOTONIC DYSTROPHY
• NAGER ACROFACIAL DYSOSTOSIS                                                                                      
• NAGER ACROFACIAL DYSOSTOSIS-WITH SEVERE FACIAL CLEFTS
• NAIL-PATELLA SYNDROME (OSTEO-ONYCHODYSPLASIA)
• NAJJAR (1973) - GENITAL ANOMALY; MENTAL RETARDATION; CARDIOMYOPATHY
• NAMAQUALAND HIP DYSPLASIA
• NANCE (1971) - STAPES FIXATION WITH PERILYMPHATIC GUSHER
• NANCE-HORAN - MESIODENS; CATARACT
• NASOPALPEBRAL LIPOMAS-COLOBOMAS
• NASU-HAKOLA - MEMBRANOUS LIPODYSTROPHY
• NEMALINE MYOPATHY
• NETHERTON - ICHTHYOSIS; BRITTLE HAIR
• NEU-LAXOVA SYNDROME
• NEUHAUSER (1975A) - MEGALOCORNEA; MENTAL RETARDATION
• NEUHAUSER (1975B) - CEREBELLAR ATAXIA; HYPOGONADISM
• NEUROCUTANEOUS ANGIOMAS
• NEUROCUTANEOUS MELANOSIS
• NEUROFIBROMATOSIS TYPE 1
• NEUROFIBROMATOSIS TYPE 2
• NEVI-ATRIAL MYXOMA-MYXOID NEUROFIBROMATA-EPIPHELIDES (NAME OR LAMB)
• NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN)
• NEZELOF (1979) - ARTHROGRYPOSIS; RENAL DYSFUNCTION; HEPATIC DISEASE
• NICOLAI-HAMEL POLYSYNDACTYLY
• NICOLAIDES-BARAITSER - MENTAL RETARDATION; SPARSE HAIR
• NIEMANN-PICK DISEASE
• NIEVERGELT SYNDROME (MESOMELIC DWARFISM)
• NODULAR HETEROTOPIA-MEGA CISTERNA MAGNA
• NOONAN SYNDROME
• NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME
• NORMAN-ROBERTS LISSENCEPHALY
• NORRIE DISEASE
• NUCHAL BLEBS-LETHAL DYSPLASIA (AUTOSOMAL RECESSIVE)
• OCCIPITAL HORN SYNDROME                                                                                                
• OCULAR ALBINISM-SENSORINEURAL DEAFNESS
• OCULO-DENTO-DIGITAL SYNDROME
• OCULO-ENCEPHALO-HEPATO-RENAL SYNDROME
• OCULOCEREBROCUTANEOUS (DELLEMAN) SYNDROME
• OHDO (1987) - TETRA-AMELIA; FACIAL ABNORMALITIES; MENTAL RETARDATION
• OLLIER ENCHONDROMATOSIS
• OMENN (1965) - RETICULOENDOTHELIOSIS; EOSINOPHILIA
• OMODYSPLASIA
• OMPHALOCELE-EXSTROPHY OF BLADDER-IMPERFORATE ANUS-SPINAL DEFECTS (OEIS)
• OPITZ (1989) - MANDIBULOFACIAL DYSOSTOSIS; HEXADACTYLY; LYMPHOEDEMA
• OPITZ-BBB SYNDROME
• OPSISMODYSPLASIA
• ORAL-FACIAL-DIGITAL SYNDROME TYPE II
• ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES
• ORAL-FACIAL-DIGITAL SYNDROME, TYPE I
• ORAL-FACIAL-DIGITAL SYNDROME, TYPE SUGARMAN (SEE-SAW WINKING WITH OFD SIGNS)
• OSEBOLD-REMONDINI - MESOMELIA; CARPAL/TARSAL FUSION
• OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I
• OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II
• OSTEOGENESIS IMPERFECTA TYPE I
• OSTEOGENESIS IMPERFECTA TYPE II
• OSTEOGENESIS IMPERFECTA TYPE III
• OSTEOGENESIS IMPERFECTA TYPE IV
• OSTEOLYSIS, MULTICENTRIC (AUTOSOMAL RECESSIVE)
• OSTEOLYSIS, TYPE THIEFFRY-KOHLER
• OSTEOLYSIS-NEPHROPATHY
• OSTEOMA CUTIS
• OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS
• OSTEOPETROSIS (AUTOSOMAL DOMINANT)
• OSTEOPETROSIS, INFANTILE (ALBERS-SCHONBERG SYNDROME)
• OSTEOPOIKILOSIS
• OSTEOPOROSIS-PSEUDOGLIOMA-MENTAL RETARDATION
• OSTERBERG (1988) - FAMILIAL EXPANSILE OSTEOLYSIS
• OTO-PALATO-DIGITAL (TAYBI) SYNDROME
• OTO-PALATO-DIGITAL SYNDROME TYPE II (FITCH (1976))
• OTOCEPHALY (AGNATHIA)
• OTODENTAL DYSPLASIA (GLOBODONTIA AND DEAFNESS)
• PACHYGYRIA AND AGENESIS OF THE CORPUS CALLOSUM (X-LINKED)                   
• PACHYONYCHIA CONGENITA
• PAI (1987) - MEDIAN CLEFT LIP; LIPOMAS; CUTANEOUS POLYPS
• PALLISTER-HALL (ANO-CEREBRO-DIGITAL) SYNDROME
• PALMER-PAGON - HYDROCEPHALUS; LOW-INSERTION UMBILICUS; CHD
• PALMOPLANTAR KERATODERMA
• PANCREATIC HYPOPLASIA-CONGENITAL HEART DEFECT
• PARASTREMMATIC DYSPLASIA
• PARIETAL FORAMINA, ENLARGED
• PARRY-ROMBERG SYNDROME (HEMIFACIAL ATROPHY)
• PARTINGTON (1981) - X-LINKED RETICULAR PIGMENTARY DISORDER
• PARTINGTON (1988) - X-LINKED MENTAL RETARDATION; DYSTONIC MOVEMENTS OF HANDS
• PATTERSON (1964) - SPLIT FOOT; DEAFNESS; MICROGNATHIA
• PATTERSON (LEPRECHAUNOID) SYNDROME
• PEARSON'S SYNDROME
• PELIZAEUS-MERZBACHER DISEASE
• PENA-SHOKEIR - MULTIPLE ANKYLOSES; PULMONARY HYPOPLASIA
• PENDRED SYNDROME (GOITRE; SENSORINEURAL DEAFNESS)
• PERLMAN SYNDROME (GIGANTISM WITH RENAL DYSPLASIA/TUMOURS)
• PERRAULT SYNDROME (OVARIAN DYSGENESIS; SENSORINEURAL DEAFNESS)           
• PERSISTENT MULLERIAN DUCT SYNDROME
• PERSISTENT MULLERIAN DUCT-LYMPHANGIECTASIS-POLYDACTYLY-HEPATIC FAILURE
• PETERS' ANOMALY
• PETTIGREW (1991) - X-LINKED MR; DANDY-WALKER; BASAL GANGLIA DISEASE
• PEUTZ-JEGHERS SYNDROME
• PFEIFFER - ACROCEPHALOSYNDACTYLY TYPE V
• PHAVER SYNDROME
• PIEBALDISM
• PIERRE ROBIN SEQUENCE-CLEFT MANDIBLE-PRE/POSTAXIAL HAND ANOMALIES-CLUBFOOT
• PIPPOW - BRACHYDACTYLY WITH VERTEBRAL ANOMALIES
• POLAND SYNDROME
• POLLITT (=TAY=IBIDS=BIDS) - MR; TRICHORRHEXIS NODOSA; ICHTHYOSIS
• POLYDACTYLY-CLEFT LIP
• POPLITEAL PTERYGIUM SYNDROME
• PORENCEPHALY, FAMILIAL
• PORPHYRIA, HOMOZYGOUS ACUTE INTERMITTENT
• POSTAXIAL OLIGODACTYLY (AUTOSOMAL DOMINANT)
• PRADER (PSEUDO VITAMIN D DEFICIENCY RICKETS)
• PRADER-WILLI SYNDROME
• PRECOCIOUS PUBERTY, FAMILIAL
• PRIETO (1987) - X-LINKED DYSMORPHIC FEATURES; MENTAL RETARDATION            
• PRIMARY LYMPHATIC DYSPLASIA
• PROGERIA SYNDROME
• PROGRESSIVE ENCEPHALOPATHY-OEDEMA-HYPSARRHYTHMIA-OPTIC ATROPHY (PEHO)
• PROLIDASE DEFICIENCY
• PROLIFERATIVE VASCULOPATHY-HYDRANENCEPHALY-HYDROCEPHALY
• PROOPS (1983) - NON-SPECIFIC X-LINKED MENTAL RETARDATION
• PROTEUS SYNDROME (HEMIHYPERTROPHY; NEVI; HAMARTOMA)
• PROUD (1992) - X-LINKED MR; SEIZURES; MICROCEPHALY; CORPUS CALLOSUM AGENESIS
• PROXIMAL FEMORAL FOCAL DEFICIENCY
• PROXIMAL SYMPHALANGISM
• PRUNE BELLY SYNDROME
• PSEUDO-ZELLWEGER SYNDROME
• PSEUDOACHONDROPLASIA
• PSEUDOXANTHOMA ELASTICUM (PXE)
• PULMONARY ATRESIA (AUTOSOMAL RECESSIVE)
• PULMONARY HYPOPLASIA - FAMILIAL
• PYKNODYSOSTOSIS (MAROTEAUX-LAMY SYNDROME)
• PYLE DISEASE (FAMILIAL METAPHYSEAL DYSPLASIA)
• PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (E1, E2, E3)
• RADIAL DEFECTS-DEAFNESS (IVIC)                                                                                  
• RADIO-ULNAR SYNOSTOSIS
• RAMON (1967) - CHERUBISM; GINGIVAL FIBROMATOSIS; EPILEPSY;MR
• RAPADILINO - RADIAL AND PATELLAR APLASIA/HYPOPLASIA
• RAPP-HODGKIN ECTODERMAL DYSPLASIA
• REARDON (1993) - MESOMELIC BONE DYSPLASIA
• REFSUM DISEASE
• REINHARDT-PFEIFFER MESOMELIA
• RENAL DYSPLASIA (AUTOSOMAL DOMINANT)
• RENAL-HEPATIC-PANCREATIC DYSPLASIA
• RENDU-OSLER-WEBER HEREDITARY TELANGIECTASIA
• RENPENNING SYNDROME (X-LINKED MENTAL RETARDATION; MICROCEPHALY)
• RESTRICTIVE DERMOPATHY
• RICHIERI-COSTA (1985C) - ACRO-FRONTO-FACIO-NASAL DYSOSTOSIS
• RICKETS-ALOPECIA
• RIEGER SYNDROME
• RIGID SPINE SYNDROME
• RILEY-DAY SYNDROME (FAMILIAL DYSAUTONOMIA)
• RITSCHER-SCHINZEL - DANDY-WALKER; ATRIOVENTRICULAR SEPTAL DEFECT
• ROBERTS (PSEUDOTHALIDOMIDE) SYNDROME
• ROBINOW (FETAL FACE) SYNDROME
• ROBINSON - ECTODERMAL DYSPLASIA; DEAFNESS
• ROKITANSKY - VAGINAL ATRESIA; RUDIMENTARY UTERUS
• ROLLAND-DESBUQUOIS - DYSSEGMENTAL DYSPLASIA
• ROMANO-WARD SYNDROME
• ROSENBERG-CHUTORIAN - OPTIC ATROPHY; PERONEAL MUSCULAR ATROPHY;DEAFNESS
• ROTHMUND-THOMSON (POIKILODERMA CONGENITA)
• RUBINSTEIN-TAYBI SYNDROME
• RUD - ICHTHYOSIS; HYPOGONADISM; MENTAL RETARDATION; RETINITIS PIGMENTOSA
• RUDIGER - ABNORMAL FACE AND DIAPHRAGM; LIMB AND GENITO-URINARY ANOMALIES
• RUSSELL-EGGITT (1989) - LEBER'S AMAUROSIS; CARDIOMYOPATHY
• RUSSELL-SILVER SYNDROME
• RUTHERFURD - GINGIVAL FIBROMAS; CORNEAL DYSTROPHY
• SACRAL AGENESIS-SPINA BIFIDA                                                                                          
• SACRAL DEFECTS (ANTERIOR)
• SAETHRE-CHOTZEN - ACROCEPHALOSYNDACTYLY TYPE III
• SALLA DISEASE (LYSOSOMAL STORAGE DISORDER)
• SANFILIPPO SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE III)
• SANTOS (1988) - HIRSCHSPRUNG; POLYDACTYLY; RENAL APLASIA;HYPERTELORISM;EAR
• SANYANUSIN (1995) - COLOBOMAS; RENAL ANOMALIES; VESICOURETERAL REFLUX
• SCALP DEFECT (AUTOSOMAL DOMINANT)
• SCHEIE SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE IS)
• SCHILBACH-ROTT - HYPOTELORISM; CLEFT PALATE; HYPOSPADIAS
• SCHIMKE (1974) - MUCOPOLYSACCHARIDOSIS; LYMPHOPENIA; NEPHROSIS
• SCHINZEL-GIEDION - HYPERTRICHOSIS; MIDFACE RETRACTION
• SCHISIS ASSOCIATION
• SCHMID METAPHYSEAL DYSPLASIA
• SCHMITT (1982) - RADIAL HYPOPLASIA; TRIPHALANGEAL THUMBS;HYPOSPADIAS
• SCHNECKENBECKEN DYSPLASIA (LETHAL SHORT-LIMBED DWARFISM)
• SCHWARTZ (1992) - NON-SPECIFIC X-LINKED MENTAL RETARDATION
• SCHWARTZ-JAMPEL SYNDROME
• SCLEROSTEOSIS
• SECKEL SYNDROME (BIRD-HEADED DWARFISM)
• SEDAGHATIAN (1980) - LETHAL METAPHYSEAL DYSPLASIA
• SEEMANOVA (1985) - MICROCEPHALY; IMMUNODEFICIENCY
• SENSORY NEUROPATHY AND DEAFNESS (AUTOSOMAL DOMINANT)
• SEPTO-OPTIC DYSPLASIA
• SERPENTINE FIBULA SYNDROME
• SHABBIR (1986) - LARYNGO-ONYCHO-CUTANEOUS SYNDROME                                    
• SHORT RIB SYNDROME, BEEMER-LANGER TYPE
• SHORT RIB-POLYDACTYLY SYNDROME TYPE 1 (SALDINO-NOONAN)
• SHORT RIB-POLYDACTYLY SYNDROME TYPE 2 (MAJEWSKI)
• SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 (VERMA-NAUMOFF)
• SHORT SYNDROME - RIEGER ANOMALY; GROWTH RETARDATION
• SHWACHMAN - PANCREATIC INSUFFICIENCY; NEUTROPENIA; METAPHYSEAL DYSPLASIA
• SIALIC ACID STORAGE DISEASE, SEVERE INFANTILE TYPE
• SIALIDOSIS TYPE 1 (CHERRY-RED SPOT; MYOCLONUS)
• SIALIDOSIS TYPE 2
• SIALURIA
• SILVERMAN (DYSSEGMENTAL DWARFISM)
• SIMPSON-GOLABI-BEHMEL SYNDROME
• SINGLE CENTRAL INCISOR-SHORT STATURE
• SINHA-VERMA - POSTAXIAL AND MESOAXIAL POLYDACTYLY (AUTOSOMAL DOMINANT)
• SIRENOMELIA/CAUDAL REGRESSION
• SITUS INVERSUS (FAMILIAL)
• SJOGREN-LARSSON SYNDROME
• SKELETAL-EXTRASKELETAL ANGIOMATOSIS
• SMITH-LEMLI-OPITZ SYNDROME TYPE I
• SMITH-LEMLI-OPITZ SYNDROME TYPE II (SEVERE LETHAL FORM)
• SMITH-MAGENIS SYNDROME
• SOMLO (1993) - MARFANOID SYNDROME WITH POLYCYSTIC RENAL DISEASE
• SOTOS SYNDROME (CEREBRAL GIGANTISM)
• SPINAL MUSCULAR ATROPHY WITH A SCLEROSING BONE DYSPLASIA
• SPINAL MUSCULAR ATROPHY-DIAPHRAGMATIC PARALYSIS
• SPLENOGONADAL FUSION-LIMB DEFECTS
• SPLIT HAND/FOOT-TIBIAL DEFECTS
• SPONDYLOCOSTAL DYSOSTOSIS
• SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY
• SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
• SPONDYLOEPIPHYSEAL DYSPLASIA TARDA (X-LINKED)
• SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTO-AXIAL INSTABILITY
• SPONDYLOMETAPHYSEAL DYSPLASIA
• STEIJLEN (1994) - ATRICHIA; PALMOPLANTAR HYPERKERATOSIS; MR; TOOTH LOSS
• STEINFELD (1982) - HOLOPROSENCEPHALY; LIMB DEFECTS
• STICKLER SYNDROME (HEREDITARY ARTHRO-OPHTHALMOPATHY)
• STIFF SKIN SYNDROME
• STILES-DOUGAN - MALFORMED UPPER EXREMITIES                                              
• STOLL (FACIOAURICULORADIAL) SYNDROME
• STURGE-WEBER SYNDROME
• SULFITE OXIDASE DEFICIENCY
• SUTHERLAND (1988) - MENTAL RETARDATION; MICROCEPHALY; SPASTIC DIPLEGIA
• SYMMETRICALLY ABSENT HANDS AND FEET
• SYMPHALANGISM TYPE FUHRMANN
• SYNDACTYLY 2-5 AND HALLUX/POLLEX VARUS
• SYNDACTYLY TYPE II
• SYNDACTYLY TYPE III
• SYNDACTYLY TYPE V
• SYNSPONDYLISM, CONGENITAL
• TAY-SACHS GM2 GANGLIOSIDOSIS TYPE 1                                                           
• TEEBI (1987B) - AARSKOG-LIKE SYNDROME (AUTOSOMAL DOMINANT)
• TER HAAR (1982) - MELNICK-NEEDLES-LIKE SYNDROME
• TERMINAL TRANSVERSE LIMB DEFECTS
• THANATOPHORIC DYSPLASIA TYPE I
• THANATOPHORIC DYSPLASIA TYPE II - CLOVERLEAF SKULL
• THORACOABDOMINAL SYNDROME
• THREE M SLENDER BONED DWARFISM
• THROMBOCYTOPENIA-ABSENT RADIUS (TAR) SYNDROME
• THUMB POLYDACTYLY
• TOLMIE (1987) - X-LINKED LETHAL MULTIPLE PTERYGIUM
• TOLMIE (1988A) - CHROMOSOME MOSAICISM; MICROCEPHALY
• TOLMIE (1988C) - COATS'; HAIR/NAIL DEFECTS; INTRACRANIAL CALCIFICATION
• TOMMERUP (1993) - CHROMOSOMAL BREAKAGE; CRANIOSYNOSTOSIS; MICROCEPHALY
• TORRE - SEBACEOUS GLAND TUMOURS; INTERNAL CARCINOMAS
• TOSTI (1994) - WOOLLY HAIR; PALMOPLANTAR KERATODERMA; CARDIAC ABNORMALITIES
• TOTAL ANOMALOUS PULMONARY VENOUS DRAINAGE (AUTOSOMAL DOMINANT)
• TOWNES - IMPERFORATE ANUS; TRIPHALANGEAL THUMBS; EAR ANOMALIES
• TREACHER COLLINS SYNDROME (MANDIBULOFACIAL DYSOSTOSIS)
• TRICHO-DENTO-OSSEOUS SYNDROME
• TRICHO-RHINO-PHALANGEAL (TRP) SYNDROME                                                      
• TRICHOMEGALY-CHORIORETINOPATHY
• TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
• TRIPHALANGEAL THUMB
• TRISMUS-PSEUDOCAMPTODACTYLY
• TUBEROUS SCLEROSIS
• TUMORAL CALCINOSIS
• TURCOT SYNDROME - CEREBRAL TUMOURS; COLONIC POLYPOSIS
• TYLOSIS-CARCINOMA OF THE OESOPHAGUS
• TYROSINAEMIA TYPE II (RICHNER-HANHART SYNDROME)
• ULLRICH'S CONGENITAL ATONIC-SCLEROTIC MUSCULAR DYSTROPHY  
• ULNAR-MAMMARY (PALLISTER) SYNDROME
• UNCOMBABLE HAIR SYNDROME
• USHER - RETINITIS PIGMENTOSA; DEAFNESS
• VAN BUCHEM - HYPEROSTOSIS CORTICALIS GENERALISATA                                    
• VAN DEN BOSCH - X-LINKED MENTAL RETARDATION PLUS
• VAN DER WOUDE - CLEFT LIP/PALATE; LIP PITS
• VARADI-PAPP - ORAL-FACIAL-DIGITAL SYNDROME TYPE VI
• VATER ASSOCIATION
• VELO-CARDIO-FACIAL SYNDROME
• VENOUS MALFORMATIONS, FAMILIAL
• VERLOES-DAVID - MESOMELIA; SYNOSTOSES; UMBILICAL ANOMALY; ABSENT SOFT PALATE
• VISCERAL MYOPATHY
• VISCERAL NEUROPATHY (FAMILIAL)
• VON HIPPEL-LINDAU SYNDROME
• WAARDENBURG SYNDROME                                                                                        
• WAISMAN SYNDROME - X-LINKED BASAL GANGLIA DISORDER WITH MENTAL RETARDATION
• WARBURG - HYDROCEPHALUS; AGYRIA; EYE ANOMALIES; ENCEPHALOCELE (HARD +/- E)
• WATERS-WEST - LETHAL CONGENITAL HAEMOLYTIC ANAEMIA; GENITAL ANOMALIES
• WEAVER SYNDROME
• WEILL-MARCHESANI SYNDROME
• WENSTRUP (1985) - FEMALE PSEUDOHERMAPHRODITISM; ANORECTAL/URINARY ABS
• WERNER (1915) - TIBIAL APLASIA; FIVE FINGERED HAND; POLYDACTYLY
• WERNER SYNDROME
• WEYERS ACROFACIAL DYSOSTOSIS
• WEYERS OLIGODACTYLY
• WIEDEMANN-RAUTENSTRAUCH (NEONATAL PROGERIA) SYNDROME
• WILDERVANCK (CERVICO-OCULO-ACOUSTIC) SYNDROME
• WILKIE (1993) - CATARACT; MICROPHTHALMIA; SEPTAL DEFECTS
• WILLIAMS SYNDROME (IDIOPATHIC HYPERCALCAEMIA)
• WILMS' TUMOUR-HEMIHYPERTROPHY
• WILSON (1991) - X-LINKED MENTAL RETARDATION; GYNAECOMASTIA; OBESITY
• WINCHESTER SYNDROME
• WISKOTT-ALDRICH - THROMBOCYTOPENIA; ECZEMA; IMMUNOLOGICAL DEFICIENCY
• WITTEBOL-POST (1993) - BLEPHAROPHIMOSIS; PTOSIS; POLYTHELIA; BRACHYDACTYLY
• WL-SYMPHALANGISM-BRACHYDACTYLY
• WOLMAN ACID LIPASE DEFICIENCY
• WOOLLY HAIR SYNDROME
• WT SYNDROME-PANCYTOPENIA-HAND DEFECTS
• X-LINKED AGAMMAGLOBULINEMIA-GROWTH HORMONE DEFICIENCY              
• X-LINKED ANOPHTHALMOS
• X-LINKED ATAXIA-DEAFNESS-OPTIC ATROPHY
• X-LINKED CARDIAC VALVULAR DYSPLASIA
• X-LINKED CARDIOSKELETAL MYOPATHY-NEUTROPENIA-ABNORMAL MITOCHONDRIA
• X-LINKED DEAFNESS-BLINDNESS-DYSTONIA-FRACTURES
• X-LINKED HYDROCEPHALUS
• X-LINKED HYPOPHOSPHATAEMIC RICKETS
• X-LINKED ICHTHYOSIS
• X-LINKED MEGALOCORNEA
• X-LINKED MICROCEPHALY
• X-LINKED MOTOR-SENSORY NEUROPATHY-DEAFNESS-MENTAL RETARDATION
• X-LINKED NEURAL TUBE DEFECTS
• X-LINKED SIDEROBLASTIC ANAEMIA-ATAXIA
• X-LINKED SPASTIC PARAPLEGIA
• X-LINKED SPINAL AND BULBAR MUSCULAR ATROPHY (KENNEDY'S SYNDROME)
• XK-APROSENCEPHALY
• YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME                                        
• YOUNG-MADDERS - HOLOPROSENCEPHALY; CONGENITAL HEART DISEASE; POLYDACTYLY
• YUNIS-VARON - CLEIDOCRANIAL DYSOSTOSIS PLUS
• ZELLWEGER (CEREBRO-HEPATO-RENAL) SYNDROME    
• ZIMMER (1985) - TETRA-AMELIA WITH MULTIPLE MALFORMATIONS
• ZIMMERMANN-LABAND - GINGIVAL FIBROMATOSIS; NAIL DEFECTS
• ZIPRKOWSKI (1962) - PARTIAL ALBINISM; DEAFNESS (X-LINKED RECESSIVE)
• ZLOTOGORA-MARTINEZ - CLEFT LIP/PALATE; ECTODERMAL DYSPLASIA
• ZWETSLOOT (1989) - HOLOPROSENCEPHALY; MICROPHTHALMIA

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