Orthopaedic Related Syndromes

Orthopaedic related syndromes are listed below in alphabetical order.
Click on the syndromes for further details:

OMIM Database ALL Syndromes - Clinical Features

University of Western Ontario - Paediatric Database

Gene maping and Other details:

• Achondrogenesis Ib
• Achondrogenesis-hypochondrogenesis, type II
• Achondroplasia
• Acrocallosal syndrome
• Acrofacial dysostosis, Nager type
• Acromesomelic dysplasia, Hunter-Thompson type
• Adhalinopathy, primary
• Agammaglobulinemia
• Albinism, brown
• Albright hereditary osteodystrophy-2
• Alkaptonuria
• Allan-Herndon syndrome
• Alzheimer disease-1, APP-related
• Alzheimer disease-2, late onset
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• Amyotrophic lateral sclerosis, juvenile recessive
• Amyotrophic lateral sclerosis-4, juvenile dominant
• Amytrophic lateral sclerosis, due to SOD1 deficiency
• Amytrophic lateral sclerosis-5, juvenile recessive (2)
• Aneurysm, familial
• Angelman syndrome
• Angioedema, hereditary
• Ankylosing spondylitis
• Apert syndrome
• Arthrogryposis multiplex congenita, distal, type 2B
• Arthrogryposis multiplex congenita, neurogenic
• Arthrogryposis, X-linked (spinal muscular atrophy, infantile, X-linked)
• Bardet-Biedl syndrome 1
• Bardet-Biedl syndrome 2
• Bartter syndrome
• Bartter syndrome, type 2
• Bartter syndrome, type 3
• Becker muscular dystrophy
• Beckwith-Wiedemann syndrome
• Bethlem myopathy
• Bethlem myopathy (2)
• Bloom syndrome
• Brachydactyly type E
• Brachydactyly, type B1
• Brachydactyly, type C
• Brachydactyly-mental retardation syndrome
• Bruck syndrome
• Campomelic dysplasia with autosomal sex reversal
• Carpal tunnel syndrome, familial
• Cartilage-hair hypoplasia
• Celiac disease
• Charcot-Marie-Tooth disease with deafness
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• Charcot-Marie-Tooth neuropathy, X-linked-1, dominant
• Charcot-Marie-Tooth neuropathy-1A
• Charcot-Marie-Tooth neuropathy-1B
• Charcot-Marie-Tooth neuropathy, demyelinating
• Charcot-Marie-Tooth neuropathy, X-linked-2, recessive
• Charcot-Marie-Tooth neuropathy-2A
• Charcot-Marie-Tooth neuropathy-2B
• Charcot-Marie-Tooth neuropathy-2D
• Charcot-Marie-Tooth neuropathy-4A
• Charcot-Marie-Tooth neuropathy-4B
• Chondrocalcinosis with early-onset osteoarthritis
• Chondrocalcinosis, familial articular
• Chondrodysplasia punctata, X-linked dominant
• Chondrodysplasia punctata, brachytelephalangic
• Chondrodysplasia, Grebe type
• Chondrosarcoma
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• Chondrosarcoma, extraskeletal myxoid
• Cleidocranial dysplasia
• Cockayne syndrome-1
• Cockayne syndrome-2, type B
• Cornelia de Lange syndrome
• Cowchock syndrome
• Craniofacial-deafness-hand syndrome
• Craniofrontonasal dysplasia
• Craniometaphyseal dysplasia
• Craniosynostosis, Adelaide type
• Craniosynostosis, type 1
• Craniosynostosis, type 2
• Crouzon syndrome with acanthosis nigricans
• Crouzon syndrome
• Cutis laxa, marfanoid neonatal type
• Cystic fibrosis
• Dejerine-Sottas disease
• Dejerine-Sottas disease, myelin P(0)-related
• Dentinogenesis imperfecta-1
• DiGeorge syndrome
• Diastrophic dysplasia
• Down syndrome
• Duchenne muscular dystrophy
• Ehlers-Danlos syndrome, type I
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• Ehlers-Danlos syndrome, type II
• Ehlers-Danlos syndrome, type III
• Ehlers-Danlos syndrome, type IV
• Ehlers-Danlos syndrome, type VI
• Ehlers-Danlos syndrome, type VIIA1
• Ehlers-Danlos syndrome, type VIIA2
• Ehlers-Danlos syndrome, type X
• Ehlers-Danlos-like syndrome
• Emery-Dreifuss muscular dystrophy
• Emery-Dreifuss muscular dystrophy, autosomal dominant
• Epiphyseal dysplasia, multiple 1
• Ewing sarcoma
• Exostoses, multiple, type 1
• Exostoses, multiple, type 2
• Exostoses, multiple, type 3
• Fibrodysplasia ossificans progressiva
• Fibrodysplasia ossificans progressiva, II
• Gaucher disease
• Gaucher disease, variant form
• Gigantism due to GHRF hypersecretion
• Glomus tumors, multiple
• Glycogen storage disease II
• Goldenhar syndrome
• Greig cephalopolysyndactyly syndrome
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• Growth hormone deficient dwarfism
• Hereditary motor and sensory neuropathy, Lom type
• Hip dysplasia, Beukes type
• Holt-Oram syndrome
• Hyperkalemic periodic paralysis
• Hyperparathyroidism, familial
• Hyperparathyroidism-jaw tumor syndrome
• Hypertension with brachydactyly
• Hypochondroplasia
• Hypokalemic periodic paralysis
• Hypoparathyroidism, X-linked
• Hypoparathyroidism
• Hypophosphatasia, adult
• Hypophosphatasia, childhood
• Hypophosphatasia, infantile
• Hypophosphatemia, hereditary
• Hypophosphatemic rickets, autosomal dominant
• Jacobs syndrome
• Kenny-Caffey syndrome
• Klippel-Feil syndrome
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• Klippel-Feil syndrome with laryngeal malformation
• Kniest dysplasia
• Langer mesomelic dysplasia
• Laron dwarfism
• Larsen's Syndrome dominent(LR1)
• Larsen Syndrom recessive
• Lesch-Nyhan syndrome
• Lethal congenital contracture syndrome
• Lowe syndrome
• MASA syndrome
• Malignant melanoma, cutaneous
• Maple syrup urine disease, type Ia
• Marfan syndrome
• Marfan syndrome, type II
• Maroteaux-Lamy syndrome, several forms
• McArdle disease
• McCune-Albright polyostotic fibrous dysplasia
• Meckel syndrome, type 1
• Meckel syndrome, type 2
• Menkes disease
• Mesomelic dysplasia, Kantaputra type
• Metaphyseal chondrodysplasia, Murk Jansen type
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• Metaphyseal chondrodysplasia, Schmid type
• Miyoshi myopathy
• Moebius syndrome
• Mucopolysaccharidosis II
• Mucopolysaccharidosis IVA
• Mucopolysaccharidosis IVB
• Mucopolysaccharidosis I
• Mucopolysaccharidosis type IX
• Multiple myeloma
• Muscle-eye-brain disease
• Muscular dystrophy with epidermolysis bullosa simplex
• Muscular dystrophy with rimmed vacuoles
• Muscular dystrophy, Duchenne-like, type 2
• Muscular dystrophy, Fukuyama congenital
• Muscular dystrophy, congenital merosin-deficient
• Muscular dystrophy, limb-girdle, type 1B
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• Muscular dystrophy, limb-girdle, type 1D
• Muscular dystrophy, limb-girdle, type 2A
• Muscular dystrophy, limb-girdle, type 2B
• Muscular dystrophy, limb-girdle, type 2C
• Muscular dystrophy, limb-girdle, type 2E
• Muscular dystrophy, limb-girdle, type 2F
• Muscular dystrophy, limb-girdle, type 2G
• Muscular dystrophy, limb-girdle, type 2H
• Muscular dystrophy, limb-girdle, type IC
• Myopathy, distal
• Myopathy, distal 2
• Myotonic dystrophy
• Myotonic dystrophy 2
• Nail-patella syndrome
• Neuropathy, hereditary sensory and autonomic, type 1
• Neuropathy, recurrent, with pressure palsies
• OSMED syndrome
• Oculodentodigital dysplasia
• Oral-facial-digital syndrome 1
• Ossification of posterior longitudinal ligament of spine
• Osteoarthrosis, precocious
• Osteogenesis imperfecta, tarda
• 
• Osteogenesis imperfecta - congenita
• Osteogenesis imperfecta, progressively deforming with normal sclera
• Osteogenesis imperfecta, Type IV
• Osteolysis, familial expansile
• Osteopetrosis, AD, type II
• Osteoporosis
• Osteoporosis, idiopathic
• Osteoporosis, involutional
• Osteoporosis-pseudoglioma syndrome
• Osteosarcoma
• Paget disease of bone
• Paget disease of bone-2
• Osteopetrosis, recessive
• Patella aplasia or hypoplasia
• Pierre Robin syndrome
• Pfeiffer syndrome
• Pituitary ACTH-secreting adenoma
• Postaxial polydactyly type A1
• Postaxial polydactyly, type A2
• Prader-Willi syndrome
• 
• Prader-Willi syndrome (2)
• Progressive pseudorheumatoid arthropathy of childhood
• Pseudoachondroplasia
• Pycnodysostosis
• Refsum disease
• Refsum disease, infantile
• Rett syndrome
• Rhabdomyosarcoma
• Rhabdomyosarcoma, alveolar
• Rhizomelic chondrodysplasia punctata, type 1
• Rickets, vitamin D-resistant
• Rothmund-Thomson syndrome
• Rubenstein-Taybi syndrome
• Russell-Silver syndrome
• SED congenita
• SEMD, Pakistani type
• SMED Strudwick type
• Sacral agenesis syndrome
• Sacral agenesis syndrome
• Saethre-Chotzen syndrome
• Saethre-Chotzen syndrome 2
• Sanfilippo syndrome, type A
• Sanfilippo syndrome, type B
• Sanfilippo syndrome, type C
• Sanfilippo syndrome, type D
• Sarcoma, synovial
• Sarcoma, synovial 2
• Scapuloperoneal spinal muscular atrophy, New England type
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• Scapuloperoneal syndrome, myopathic type
• Schwartz-Jampel syndrome
• Scurvy
• Short stature, idiopathic
• Short stature, idiopathic familial (3)
• Shprintzen-Goldberg syndrome
• Smith-Lemli-Opitz syndrome, type I
• Smith-Lemli-Opitz syndrome, type II
• Smith-Magenis syndrome
• Spastic cerebral palsy, symmetric
• Spastic paraplegia
• Spinal and bulbar muscular atrophy of Kennedy
• Spinal muscular atrophy, X-linked lethal infantile
• Spinal muscular atrophy, congenital nonprogressive, of lower limbs
• Spinal muscular atrophy, distal, with upper limb predominance
• Spinal muscular atrophy, juvenile
• Spinal muscular atrophy-1
• Spinal muscular atrophy-2
• Spinal muscular atrophy-3
• Spinal muscular atrophy-4
• Split hand/foot malformation, type 1
• Split hand/foot malformation, type 2
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• Split hand/foot malformation, type 3
• Spondylocostal dysostosis, autosomal recessive, 1
• Spondyloepiphyseal dysplasia tarda
• Spondylometaphyseal dysplasia, Japanese type
• Stickler syndrome, type I
• Stickler syndrome, type II
• Stickler syndrome, type III
• Symphalangism, proximal
• Syndactyly, type III
• Synostoses syndrome, multiple
• Synpolydactyly, type II
• Tibial muscular dystrophy
• Townes-Brocks syndrome
• Trichorhinophalangeal syndrome, type I
• Triphalangeal thumb-polysyndactyly syndrome
• Turner syndrome
• Van Buchem disease
• Vohwinkel syndrome
• Warfarin sensitivity
• Weissenbacher-Zweymuller syndrome
• Wieacker-Wolff syndrome
• XLA and isolated growth hormone deficiency