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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Musculoskeletal Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 3M syndrome
* Absence of Tibia
* Absence of tibia with polydactyly
* Absent patella
* Achondrogenesis type 1A
* Achondrogenesis type 1B
* Achondrogenesis type 2
* Achondroplasia
* Acro-pectoro-renal field defect
* Acrocallosal syndrome, Schinzel type
* Acrocapitofemoral dysplasia
* Acrocephalopolydactylous dysplasia
* Acrodysostosis
* Acrodysplasia scoliosis
* Acrofacial dysostosis Palagonia type
* Acrofacial dysostosis Rodriguez type
* Acrofrontofacionasal dysostosis syndrome
* Acromesomelic dysplasia
* Acromesomelic dysplasia Hunter Thompson type
* Acromesomelic dysplasia Maroteaux type
* Acromicric dysplasia
* Acroosteolysis dominant type
* Acropectoral syndrome
* Acropectorovertebral dysplasia F form
* Adactylia unilateral
* Adams Oliver syndrome
* ADULT syndrome
* Adult-onset Still's disease
* Al Gazali Sabrinathan Nair syndrome
* Allain-Babin-Demarquez syndrome
* Alpha-mannosidosis type 1
* Amyotrophy, neurogenic scapuloperoneal, New England type
* Anauxetic dysplasia
* Angel shaped phalangoepiphyseal dysplasia
*   Ankylosing spondylitis
* Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* Antley Bixler syndrome
* Apert syndrome
* Arthrogryposis multiplex congenita
* Arts syndrome
* Aspartylglycosaminuria
* Atelosteogenesis type 1
* Atelosteogenesis type 2
* Atelosteogenesis type 3
* Auralcephalosyndactyly
* Auriculoosteodysplasia
* Axial osteomalacia
* Axial spondylometaphyseal dysplasia
* Baby rattle pelvic dysplasia
* Baller-Gerold syndrome
* Banki syndrome
* Beardwell syndrome
* Behcet's disease
* Bethlem myopathy
* Beukes familial hip dysplasia
* Blau syndrome
* Blount disease
* BOD syndrome
* Bone dysplasia Azouz type
* Bone dysplasia lethal Holmgren type
* Boomerang dysplasia
* Bowing of legs, anterior with dwarfism
* Brachycephalofrontonasal dysplasia
* Brachydactylous dwarfism Mseleni type
* Brachydactyly long thumb type
* Brachydactyly Mononen type
* Brachydactyly type A1
* Brachydactyly type A2
* Brachydactyly type A4
* Brachydactyly type A5
* Brachydactyly type A6
* Brachydactyly type A7
* Brachydactyly type B
* Brachydactyly type C
* Brachydactyly type E
* Brachydactyly types B and E combined
* Brachyolmia type 1 Hobaek type
* Branchial arch syndrome X-linked
* Brody myopathy
* Bruck syndrome 1
* Buschke Ollendorff syndrome
* C syndrome
* Caffey disease
* Campomelia Cumming type
* Campomelic dysplasia
* Camptobrachydactyly
* Camptodactyly, tall stature, and hearing loss syndrome
* Camurati-Engelmann disease
* Cantu syndrome
* Cardiocranial syndrome
* Carpenter syndrome
* Carpotarsal osteochondromatosis
* Cartilage-hair hypoplasia
* Catel Manzke syndrome
* Cerebellar hypoplasia with endosteal sclerosis
* Charlie M syndrome
* Cherubism
* CHILD syndrome
* Chondrocalcinosis 2
* Chondrodysplasia Blomstrand type
* Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata 2 X-linked dominant
* Chondrodysplasia punctata Sheffield type
* Chondrodysplasia with joint dislocations, GPAPP type
* Chondrodysplasia, Grebe type
* Chondrosarcoma
* Chordoma
* Chronic recurrent multifocal osteomyelitis
* Cleft hand absent tibia
* Cleidocranial dysplasia
* Cleidorhizomelic syndrome
* Coccygodynia
* Coffin-Siris syndrome
* Cole Carpenter syndrome
* Collagenopathy type 2 alpha 1
* Condensing osteitis of the clavicle
* Congenital primary aphakia
* Congenital radio-ulnar synostosis
* Cornelia de Lange syndrome
* Cousin syndrome
* Craniodiaphyseal dysplasia
* Cranioectodermal dysplasia
* Craniofacial dysostosis with diaphyseal hyperplasia
* Craniofrontonasal dysplasia
* Craniometaphyseal dysplasia, autosomal dominant
* Craniometaphyseal dysplasia, autosomal recessive type
* Craniosynostosis, anal anomalies, and porokeratosis
* Craniotelencephalic dysplasia
* Crouzon syndrome
* Currarino triad
* Curry Jones syndrome
* Cushing's symphalangism
* Czech dysplasia metatarsal type
* Dandy-Walker malformation with postaxial polydactyly
* Deficiency of interleukin-1 receptor antagonist
* Dentatorubral-pallidoluysian atrophy
* Desbuquois syndrome
* Desmosterolosis
* Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* Diastrophic dysplasia
* Dwarfism stiff joint ocular abnormalities
* Dyggve-Melchior-Clausen syndrome
* Dyschondrosteosis nephritis
* Dysferlinopathy
* Dysosteosclerosis
* Dysplasia epiphysealis hemimelica
* Dyssegmental dysplasia Rolland-Desbuquois type
* Dyssegmental dysplasia Silverman-Handmaker type
* EEM syndrome
* Ehlers-Danlos syndrome progeroid type
* Ellis-Van Creveld syndrome
* Epidermolysa bullosa simplex with muscular dystrophy
* Epiphyseal dysplasia multiple with early-onset diabetes mellitus
* Erdheim-Chester disease
* Ewing's sarcoma
* Familial avascular necrosis of the femoral head
* Familial cold autoinflammatory syndrome
* Familial hypocalciuric hypercalcemia type 2
* Familial hypocalciuric hypercalcemia type 3
* Familial Mediterranean fever
* Familial tumoral calcinosis
* Fanconi anemia
* Feingold syndrome
* Felty's syndrome
* Femoral facial syndrome
* Femur bifid with monodactylous ectrodactyly
* Femur fibula ulna syndrome
* Fetal thalidomide syndrome
* Fibrochondrogenesis
* Fibular aplasia ectrodactyly
* Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
* Fibular hypoplasia and complex brachydactyly
* Filippi syndrome
* Fitzsimmons-Guilbert syndrome
* Frank Ter Haar syndrome
* Freiberg's disease
* Frontofacionasal dysplasia
* Frontometaphyseal dysplasia
* Frontonasal dysplasia
* Fryns Hofkens Fabry syndrome
* Fucosidosis
* Fuhrmann syndrome
* Galactosialidosis
* Gaucher disease type 3
* Geleophysic dwarfism
* Genoa syndrome
* Genochondromatosis
* Geroderma osteodysplastica
* Ghosal hematodiaphyseal dysplasia syndrome
* GM1 gangliosidosis type 1
* GM1 gangliosidosis type 2
* GM1 gangliosidosis type 3
* Gorham's disease
* Gracile bone dysplasia
* Grant syndrome
* Greig cephalopolysyndactyly syndrome
* Gurrieri syndrome
* Hajdu-Cheney syndrome
* Hand foot uterus syndrome
* Hanhart syndrome
* Hay-Wells syndrome
* Heart-hand syndrome, Slovenian type
* Heart-hand syndrome,Spanish type
* Hemifacial myohyperplasia
* Hereditary multiple osteochondromas
* Holt-Oram syndrome
* Hunter Rudd Hoffmann syndrome
* Hunter-McAlpine syndrome
* Hyde Forster Mccarthy Berry syndrome
* Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Hyper-IgD syndrome
* Hyperostosis corticalis generalisata
* Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
* Hyperparathyroidism, neonatal severe primary
* Hyperphosphatemic familial tumoral calcinosis
* Hypochondroplasia
* Hypophosphatemic rickets
* I cell disease
* Inclusion body myopathy 3
* Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
* Inclusion body myositis
* Iridogoniodysgenesis type1
* IVIC syndrome
* Jackson-Weiss syndrome
* Jansen type metaphyseal chondrodysplasia
* Jeune syndrome
* Johnson Munson syndrome
* Juvenile dermatomyositis
* Juvenile hyaline fibromatosis
* Juvenile osteoporosis
* Kaplan Plauchu Fitch syndrome
* Kenny-Caffey syndrome type 1
* Kenny-Caffey syndrome type 2
* Keutel syndrome
* Kienbock's disease
* Kleiner Holmes syndrome
* Klippel Feil syndrome
* Klippel-Trenaunay syndrome
* Kniest dysplasia
* Kniest like dysplasia lethal
* Kurczynski Casperson syndrome
* Kyphomelic dysplasia
* Lacrimo-auriculo-dento-digital syndrome
* Lambdoid synostosis
* Lambert Eaton myasthenic syndrome
* Langer mesomelic dysplasia
* Larsen syndrome
* Laurin-Sandrow syndrome
* Legg-Calve-Perthes disease
* Lenz Majewski hyperostotic dwarfism
* Leri pleonosteosis
* Leri Weill dyschondrosteosis
* Lethal chondrodysplasia Moerman type
* Lethal chondrodysplasia Seller type
* Levator syndrome
* Limb-girdle muscular dystrophy type 2E
* Limb-girdle muscular dystrophy type 2F
* Limb-girdle muscular dystrophy type 2H
* Limb-girdle muscular dystrophy, type 1A
* Limb-girdle muscular dystrophy, type 2A
* Limb-girdle muscular dystrophy, type 2B
* Limb-girdle muscular dystrophy, type 2C
* Limb-girdle muscular dystrophy, type 2D
* Limb-mammary syndrome
* Lowry Maclean syndrome
* Lowry Wood syndrome
* Macrophagic myofasciitis
* Maffucci syndrome
* Majeed syndrome
* Mandibuloacral dysplasia with type A lipodystrophy
* Mandibuloacral dysplasia with type B lipodystrophy
* Mannosidosis, beta A, lysosomal
* Marshall syndrome
* Meckel syndrome
* Median cleft of upper lip with polyps of facial skin and nasal mucosa
* Meier-Gorlin syndrome
* Melnick-Needles syndrome
* Melorheostosis
* Mental retardation skeletal dysplasia abducens palsy
* Mesomelia-synostoses syndrome
* Mesomelic dysplasia Kantaputra type
* Mesomelic dysplasia Savarirayan type
* Metacarpals 4 and 5 fusion
* Metachondromatosis
* Metaphyseal acroscyphodysplasia
* Metaphyseal chondrodysplasia Schmid type
* Metaphyseal chondrodysplasia Spahr type
* Metaphyseal dysplasia maxillary hypoplasia brachydactyly
* Metaphyseal dysplasia without hypotrichosis
* Microcephalic osteodysplastic primordial dwarfism type 1
* Microcephalic primordial dwarfism Toriello type
* Micromelic bone dysplasia with cloverleaf skull
* Microsomia hemifacial radial defects
* Miller syndrome
* Minicore myopathy with external ophthalmoplegia
* Monomelic amyotrophy
* Morquio syndrome A
* Muckle-Wells syndrome
* Mucolipidosis III alpha/beta
* Mucopolysaccharidosis type IIIA
* Mucopolysaccharidosis type IIIB
* Mucopolysaccharidosis type VII
* Muenke Syndrome
* Multicentric osteolysis nephropathy
* Multiple epiphyseal dysplasia
* Multiple familial trichoepithelioma 1
* Multiple sulfatase deficiency
* Multiple synostoses syndrome 1
* Muscular dystrophy
* Muscular dystrophy, congenital, megaconial type
* MYH7-related scapuloperoneal myopathy
* Myostatin-related muscle hypertrophy
* Myotonia congenita autosomal dominant
* Myotonic dystrophy
* Myotonic dystrophy type 2
* Nager acrofacial dysostosis
* Nail patella syndrome
* Nievergelt syndrome
* Normophosphatemic familial tumoral calcinosis
* Occipital horn syndrome
* Oculoauriculofrontonasal syndrome
* Oculodentodigital dysplasia
* Oculomaxillofacial dysostosis
* Oculopharyngeal muscular dystrophy
* Oliver syndrome
* Ollier disease
* Omodysplasia 1
* Omodysplasia 2
* Opsismodysplasia
* Orofaciodigital syndrome 1
* Orofaciodigital syndrome 10
* Orofaciodigital syndrome 11
* Orofaciodigital syndrome 2
* Orofaciodigital syndrome 3
* Orofaciodigital syndrome 4
* Orofaciodigital syndrome 5
* Orofaciodigital syndrome 6
* Orofaciodigital syndrome 8
* Orofaciodigital syndrome 9
* Oslam syndrome
* OSMED Syndrome
* Ossification of the posterior longitudinal ligament of the spine
* Osteoarthropathy of fingers familial
* Osteochondritis dissecans
* Osteodysplasia familial Anderson type
* Osteodysplasty precocious of Danks Mayne and Kozlowski
* Osteoectasia familial
* Osteofibrous dysplasia
* Osteogenesis imperfecta type 1
* Osteogenesis imperfecta type 3
* Osteogenesis imperfecta type 4
* Osteogenesis imperfecta type 5
* Osteogenesis imperfecta type 6
* Osteoglophonic dysplasia
* Osteomesopyknosis
* Osteopenia and sparse hair
* Osteopetrosis autosomal dominant type 1
* Osteopetrosis autosomal dominant type 2
* Osteopetrosis autosomal recessive 3
* Osteopetrosis autosomal recessive 7
* Osteopoikilosis and dacryocystitis
* Osteoporosis oculocutaneous hypopigmentation syndrome
* Osteoporosis-pseudoglioma syndrome
* Osteosarcoma
* Oto-palato-digital syndrome type 1
* Pachydermoperiostosis
* Pacman dysplasia
* Paget disease, juvenile
* Pallister-Hall syndrome
* Paramyotonia congenita
* Parastremmatic dwarfism
* PARC syndrome
* Patterson Stevenson syndrome
* Pelvic dysplasia arthrogryposis of lower limbs
* Periodic fever, aphthous stomatitis, pharyngitis and adenitis
* Periodic fever, familial, autosomal dominant
* Petit-Fryns syndrome
* Phocomelia ectrodactyly deafness sinus arrhythmia
* Piriformis syndrome
* Pleoconial myopathy with salt craving
* Poland syndrome
* Polycystic bone disease
* Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Polydactyly cleft lip palate psychomotor retardation
* Polydactyly myopia syndrome
* Polyostotic osteolytic dysplasia, hereditary expansile
* Potassium aggravated myotonia
* Prata Libéral Gonçalves syndrome
* Preaxial deficiency, postaxial polydactyly and hypospadias
* Progeria
* Progressive osseous heteroplasia
* Progressive pseudorheumatoid arthropathy of childhood
*   Protein C deficiency
* Pseudoachondroplasia
* Pseudoaminopterin syndrome
* Pseudodiastrophic dysplasia
* Pseudohypoparathyroidism type 1A
* Pseudohypoparathyroidism type 1C
* Pseudopseudohypoparathyroidism
* Pycnodysostosis
* Pyknoachondrogenesis
* Pyle disease
* Pyoderma gangrenosum
* Pyogenic arthritis, pyoderma gangrenosum and acne
* Radio-ulnar synostosis type 1
* Radio-ulnar synostosis type 2
* Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
* Raine syndrome
* Ramer Ladda syndrome
* Ramon Syndrome
* Rapadilino syndrome
* Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* Rhizomelic dysplasia Patterson Lowry type
* Rhizomelic syndrome
* Rigid spine syndrome
* Roberts syndrome
* Robinow Sorauf syndrome
* Sakati syndrome
* Salla disease
* SAPHO syndrome
*   Sarcoidosis
* Say Meyer syndrome
* Say-Field-Coldwell syndrome
* Scalp defects postaxial polydactyly
* SCARF syndrome
* Scheuermann disease
* Schinzel Giedion syndrome
* Schneckenbecken dysplasia
* Schwartz Jampel syndrome type 1
* Sclerosteosis
* Seckel syndrome
* Sepiapterin reductase deficiency
* Short rib-polydactyly syndrome type 3
* Short rib-polydactyly syndrome type 1
* Short rib-polydactyly syndrome type 2
* Short rib-polydactyly syndrome type 4
* Short stature syndrome, Brussels type
* Shprintzen-Goldberg craniosynostosis syndrome
* Shwachman-Diamond syndrome
* Sickle cell anemia
* Sillence syndrome
* Singleton Merten syndrome
*   Slipped capital femoral epiphysis
* Small patella syndrome
* Smith McCort dysplasia
* Smith-Lemli-Opitz syndrome
* Spastic paraplegia 20
* Spheroid body myopathy
* Spinal muscular atrophy Ryukyuan type
* Spinal muscular atrophy type 1 with congenital bone fractures
* Spinal muscular atrophy type 3
* Spinal muscular atrophy type 4
* Spinal muscular atrophy with respiratory distress 1
* Splenogonadal fusion limb defects micrognatia
* Split hand foot malformation
* Split hand split foot nystagmus
* Spondylocamptodactyly
* Spondylocarpotarsal synostosis syndrome
* Spondylocostal dysostosis 1
* Spondyloenchondrodysplasia
* Spondyloepimetaphyseal dysplasia Genevieve type
* Spondyloepimetaphyseal dysplasia joint laxity
* Spondyloepimetaphyseal dysplasia Matrilin-3 related
* Spondyloepimetaphyseal dysplasia Missouri type
* Spondyloepimetaphyseal dysplasia Shohat type
* Spondyloepimetaphyseal dysplasia Sponastrime type
* Spondyloepimetaphyseal dysplasia with hypotrichosis
* Spondyloepimetaphyseal dysplasia with multiple dislocations
* Spondyloepimetaphyseal dysplasia X-linked
* Spondyloepimetaphyseal dysplasia, Aggrecan type
* Spondyloepiphyseal dysplasia Maroteaux type
* Spondyloepiphyseal dysplasia tarda autosomal dominant
* Spondyloepiphyseal dysplasia tarda Toledo type
* Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
* Spondylometaepiphyseal dysplasia short limb-hand type
* Spondylometaphyseal dysplasia Algerian type
* Spondylometaphyseal dysplasia corner fracture type
* Spondylometaphyseal dysplasia Sedaghatian type
* Spondylometaphyseal dysplasia type A4
* Spondylometaphyseal dysplasia with cone-rod dystrophy
* Spondylometaphyseal dysplasia with dentinogenesis imperfecta
* Spondylometaphyseal dysplasia X-linked
* Spondyloperipheral dysplasia
* Sprengel deformity
* STAR syndrome
* Stickler syndrome type 1
* Stickler syndrome, type 2
* Stickler syndrome, type 3
* Stiff person syndrome
* Stuve-Wiedemann syndrome
* Summitt syndrome
* Symphalangism with multiple anomalies of hands and feet
* Syndactyly Cenani Lenz type
* Syndactyly type 3
* Syndactyly type 5
* Syndactyly type 9
* Syndactyly-polydactyly-earlobe syndrome
* Syngnathia multiple anomalies
* Synovial Chondromatosis
* Systemic onset juvenile idiopathic arthritis
* TAR syndrome
* TARP syndrome
* Tarsal carpal coalition syndrome
* Tarsal tunnel syndrome
* Tetraamelia multiple malformations X-linked
* Thanatophoric dysplasia Glasgow variant
* Thanatophoric dysplasia type 2
* Thoracomelic dysplasia
* Tibia absent polydactyly arachnoid cyst
* Tietze syndrome
* Treacher Collins syndrome
* Tricho-dento-osseous syndrome
* Trichorhinophalangeal syndrome type 2
* Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
* Triphalangeal thumb polysyndactyly syndrome
* Triphalangeal thumbs brachyectrodactyly
* Trochlea of the humerus aplasia of
* Trochlear dysplasia
* Tubular aggregate myopathy
* Ulna and fibula absence of with severe limb deficiency
* Ulna metaphyseal dysplasia syndrome
* Ulnar hypoplasia lobster claw deformity of feet
* Ulnar-mammary syndrome
* Upington disease
* Verloes Bourguignon syndrome
* Viljoen Kallis Voges syndrome
* Warman Mulliken Hayward syndrome
* Weill-Marchesani syndrome
* Weissenbacher-Zweymuller syndrome
* Weyers acrofacial dysostosis
* Wildervanck syndrome
* Wrinkly skin syndrome
* X-linked dominant scapuloperoneal myopathy
* Yunis Varon syndrome