List of rare musculoskeletal diseases

List of Rare Musculoskeletal Diseases

• 12q14 microdeletion syndrome
• 2q37 deletion syndrome
• 3M syndrome
• Absence of Tibia
• Absence of tibia with polydactyly
• Absent patella
• Acheiropody
• Achondrogenesis type 1A - See Achondrogenesis
• Achondrogenesis type 1B - See Achondrogenesis
• Achondrogenesis type 2 - See Achondrogenesis
• Achondroplasia
• Acro-pectoro-renal field defect
• Acrocallosal syndrome, Schinzel type
• Acrocapitofemoral dysplasia
• Acrocephalopolydactyly
• Acrodysostosis
• Acrodysplasia scoliosis
• Acrofacial dysostosis Catania type
• Acrofacial dysostosis Palagonia type
• Acrofacial dysostosis Rodriguez type
• Acrofrontofacionasal dysostosis syndrome
• Acromelic frontonasal dysostosis
• Acromesomelic dysplasia
• Acromesomelic dysplasia Hunter Thompson type
• Acromesomelic dysplasia Maroteaux type
• Acromicric dysplasia
• Acroosteolysis dominant type
• Acropectoral syndrome
• Acropectorovertebral dysplasia F form
• Acute febrile neutrophilic dermatosis
• Adactylia unilateral
• Adams-Oliver syndrome
• Adenosine Deaminase 2 deficiency
• ADULT syndrome
• Adult-onset Still's disease
• Aicardi-Goutieres syndrome
• Aicardi-Goutieres syndrome type 5
• Al Gazali Sabrinathan Nair syndrome
• Al-Awadi-Raas-Rothschild syndrome
• Allain-Babin-Demarquez syndrome
• Alpha-mannosidosis
• Amyotrophy, neurogenic scapuloperoneal, New England type
• Anauxetic dysplasia
• Angel shaped phalangoepiphyseal dysplasia
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Ankylosing spondylitis - Not a rare disease.
• Ankylosing vertebral hyperostosis with tylosis
• 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
• Auriculo-condylar syndrome
• Auriculoosteodysplasia
• Autosomal dominant spondyloepiphyseal dysplasia tarda
• Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive protein C deficiency
• Axial osteomalacia
• Axial spondylometaphyseal dysplasia
• Baby rattle pelvic dysplasia
• Baller-Gerold syndrome
• Banki syndrome
• Beare-Stevenson cutis gyrata syndrome
• Behçet disease
• Benallegue Lacete syndrome
• 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 elbow wrist dysplasia
• 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 3
• Branchial arch syndrome X-linked
• Brody myopathy
• Bruck syndrome 1
• Buschke Ollendorff syndrome
• C syndrome
• Caffey disease
• Campomelia Cumming type
• Campomelic dysplasia
• Camptobrachydactyly
• Camptodactyly arthropathy coxa vara pericarditis syndrome
• Camptodactyly syndrome Guadalajara type 2
• Camptodactyly, tall stature, and hearing loss syndrome
• Camurati-Engelmann disease
• Cantu syndrome
• Carpenter syndrome
• Carpotarsal osteochondromatosis
• Cartilage-hair hypoplasia
• Catel Manzke syndrome
• Cerebellar hypoplasia with endosteal sclerosis
• Cerebro-costo-mandibular syndrome
• Cervical dystonia
• Charlie M syndrome
• Cherubism
• CHILD syndrome
• Childhood hypophosphatasia
• Chondrocalcinosis 2
• Chondrodysplasia Blomstrand type
• Chondrodysplasia punctata 1, X-linked recessive
• Chondrodysplasia punctata Sheffield type
• Chondrodysplasia with joint dislocations, GPAPP type
• Chondrodysplasia, Grebe type
• Chondrosarcoma
• Chordoma
• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
• Chronic recurrent multifocal osteomyelitis
• Cleft hand absent tibia
• Cleidocranial dysplasia
• Cleidocranial dysplasia recessive form
• Cleidorhizomelic syndrome
• CLOVES syndrome
• Coccygodynia
• CODAS syndrome
• Coffin-Siris syndrome
• COG1-CDG (CDG-IIg)
• Cole Carpenter syndrome
• Collagenopathy type 2 alpha 1
• Condensing osteitis of the clavicle
• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Congenital contractural arachnodactyly
• Congenital femoral deficiency
• Congenital primary aphakia
• Congenital radioulnar synostosis
• Cornelia de Lange syndrome
• Cousin syndrome
• Craniodiaphyseal dysplasia
• Cranioectodermal dysplasia
• Craniofacial dysostosis with diaphyseal hyperplasia
• Craniofacial dyssynostosis
• Craniofrontonasal dysplasia
• Craniometaphyseal dysplasia, autosomal dominant
• Craniometaphyseal dysplasia, autosomal recessive type
• Craniosynostosis, anal anomalies, and porokeratosis
• Craniotelencephalic dysplasia
• Crouzon syndrome
• Culler-Jones syndrome
• Currarino triad
• Curry Jones syndrome
• Czech dysplasia metatarsal type
• Dandy-Walker malformation with postaxial polydactyly
• Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Deficiency of interleukin-1 receptor antagonist
• Delayed membranous cranial ossification
• Dentatorubral-pallidoluysian atrophy
• Desbuquois syndrome
• Desmosterolosis
• Diaphyseal medullary stenosis with malignant fibrous histiocytoma
• Diastrophic dysplasia
• Dihydropyrimidine dehydrogenase deficiency - Not a rare disease.
• Dyggve-Melchior-Clausen syndrome
• Dyschondrosteosis nephritis
• Dysferlinopathy
• Dysosteosclerosis
• Dysplasia epiphysealis hemimelica
• Dyssegmental dysplasia Rolland-Desbuquois type
• Dyssegmental dysplasia Silverman-Handmaker type
• DYT-GNAL
• EEC syndrome
• EEM syndrome
• Ellis-Van Creveld syndrome
• Enthesitis-related juvenile idiopathic arthritis
• Epidermolysa bullosa simplex with muscular dystrophy
• Epiphyseal dysplasia multiple with early-onset diabetes mellitus
• Erdheim-Chester disease
• Ewing sarcoma
• Familial avascular necrosis of the femoral head
• Familial cold autoinflammatory syndrome
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial Mediterranean fever
• Familial osteochondritis dissecans
• 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
• Fibrodysplasia ossificans progressiva
• Fibular aplasia ectrodactyly
• Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
• Fibular hemimelia
• Fibular hypoplasia and complex brachydactyly
• Filippi syndrome
• Fitzsimmons-Guilbert syndrome
• Focal segmental glomerulosclerosis
• Frank Ter Haar syndrome
• Freiberg's disease
• Frontofacionasal dysplasia
• Frontometaphyseal dysplasia
• Frontonasal dysplasia
• Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia
• Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See Frontonasal dysplasia
• Frontorhiny - See Frontonasal dysplasia
• Fryns Hofkens Fabry syndrome
• Fucosidosis
• Fuhrmann syndrome
• Galactosialidosis
• Gaucher disease type 1
• Gaucher disease type 3
• Geleophysic dwarfism
• Genitopatellar syndrome
• Genoa syndrome
• Genochondromatosis
• Geroderma osteodysplastica
• Ghosal hematodiaphyseal dysplasia syndrome
• Giant cell tumor of bone
• GM1 gangliosidosis type 1
• GM1 gangliosidosis type 2
• GM1 gangliosidosis type 3
• Goldenhar disease
• Gorham's disease
• Gracile bone dysplasia
• Grant syndrome
• Greenberg dysplasia
• Greig cephalopolysyndactyly syndrome
• Gurrieri syndrome
• Hallermann-Streiff syndrome
• Hand foot uterus syndrome
• Hanhart syndrome
• Heart-hand syndrome, Slovenian type
• Heart-hand syndrome, Spanish type
• Hemifacial microsomia
• Hemifacial myohyperplasia
• Hereditary antithrombin deficiency
• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Hereditary multiple osteochondromas
• Holt-Oram syndrome
• Hunter-McAlpine syndrome
• Hurler syndrome
• Hurler–Scheie syndrome
• Hyaline fibromatosis syndrome
• Hyper-IgD syndrome
• Hyperostosis corticalis generalisata
• Hyperphosphatemic familial tumoral calcinosis
• Hypochondroplasia
• Hypophosphatemic rickets
• I cell disease
• IMAGe syndrome
• Imperforate oropharynx-costo vetebral anomalies
• Inclusion body myopathy 3
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Inclusion body myositis
• Intellectual disability-spasticity-ectrodactyly syndrome
• Iridogoniodysgenesis type 1
• IVIC syndrome
• Jackson-Weiss syndrome
• Jansen type metaphyseal chondrodysplasia
• Jeune syndrome
• Johnson Munson syndrome
• Juvenile dermatomyositis
• Juvenile osteoporosis
• Juvenile Paget disease
• 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
• Kohler disease
• Kyphomelic dysplasia
• Lacrimo-auriculo-dento-digital syndrome
• Lambdoid synostosis
• Lambert Eaton myasthenic syndrome
• Langer mesomelic dysplasia
• Larsen syndrome
• Lateral meningocele 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 1A
• Limb-girdle muscular dystrophy type 2A
• Limb-girdle muscular dystrophy type 2B
• Limb-girdle muscular dystrophy type 2E
• Limb-girdle muscular dystrophy type 2F
• Limb-girdle muscular dystrophy type 2H
• Limb-girdle muscular dystrophy, type 2C
• Limb-girdle muscular dystrophy, type 2D
• Limb-mammary syndrome
• Loeys-Dietz syndrome
• Lowry Maclean syndrome
• Lowry Wood syndrome
• Macrophagic myofasciitis
• Maffucci syndrome
• MAGIC syndrome
• Majeed syndrome
• Mandibuloacral dysplasia with type A lipodystrophy
• Mandibuloacral dysplasia with type B lipodystrophy
• Mandibulofacial dysostosis with microcephaly
• Mannosidosis, beta A, lysosomal
• Marshall syndrome
• Marshall-Smith syndrome
• McCune-Albright syndrome
• Meckel syndrome
• Median cleft of upper lip with polyps of facial skin and nasal mucosa
• Meier-Gorlin syndrome
• Melnick-Needles syndrome
• Melorheostosis
• Melorheostosis with osteopoikilosis
• Mental retardation skeletal dysplasia abducens palsy
• Mesomelia-synostoses syndrome
• Mesomelic dwarfism cleft palate camptodactyly
• 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 dysostosis-intellectual disability-conductive deafness syndrome
• Metaphyseal dysplasia maxillary hypoplasia brachydactyly
• Metaphyseal dysplasia without hypotrichosis
• Metatropic dysplasia
• Mevalonic aciduria
• Microcephalic osteodysplastic primordial dwarfism type 1
• Microcephalic osteodysplastic primordial dwarfism type 2
• Microcephalic primordial dwarfism Toriello type
• Microsomia hemifacial radial defects
• Miller syndrome
• Minicore myopathy with external ophthalmoplegia
• Monomelic amyotrophy
• Muckle-Wells syndrome
• Mucolipidosis III alpha/beta
• Mucolipidosis type 4
• Mucopolysaccharidosis type III
• Mucopolysaccharidosis type IIIA
• Mucopolysaccharidosis type IIIB
• Mucopolysaccharidosis type IIIC
• Mucopolysaccharidosis type IIID
• Mucopolysaccharidosis type IV
• Mucopolysaccharidosis type IVA
• Mucopolysaccharidosis type VII
• Muenke Syndrome
• Multicentric carpotarsal osteolysis syndrome
• Multicentric osteolysis nephropathy
• Multiple epiphyseal dysplasia
• Multiple epiphyseal dysplasia 2
• Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma
• Multiple sulfatase deficiency
• Multiple synostoses syndrome 1
• Multiple system atrophy
• Muscular dystrophy
• Muscular dystrophy, congenital, megaconial type
• MYH7-related scapuloperoneal myopathy
• Myhre syndrome
• Myosinopathies
• Myostatin-related muscle hypertrophy
• Myotonic dystrophy
• Myotonic dystrophy type 2
• Nager acrofacial dysostosis
• Nail-patella syndrome
• Nakajo Nishimura syndrome
• Neonatal Onset Multisystem Inflammatory disease
• Neonatal severe hyperparathyroidism
• Nestor-guillermo progeria syndrome
• Neurofibromatosis type 1
• Nievergelt syndrome
• Non-dystrophic myotonic disorders
• 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 - Not a rare disease.
• Osteoarthropathy of fingers familial
• Osteochondritis dissecans
• Osteodysplasia familial Anderson type
• Osteodysplasty precocious of Danks Mayne and Kozlowski
• Osteofibrous dysplasia
• Osteogenesis imperfecta type I
• Osteogenesis imperfecta type II
• Osteogenesis imperfecta type III
• Osteogenesis imperfecta type IV
• Osteogenesis imperfecta type V
• Osteogenesis imperfecta type VI
• Osteoglophonic dysplasia
• Osteomesopyknosis
• Osteopathia striata cranial sclerosis
• Osteopenia and sparse hair
• Osteopetrosis autosomal dominant type 1
• Osteopetrosis autosomal dominant type 2
• Osteopetrosis autosomal recessive 3
• Osteopetrosis autosomal recessive 4
• Osteopetrosis autosomal recessive 7
• Osteopoikilosis and dacryocystitis
• Osteoporosis oculocutaneous hypopigmentation syndrome
• Osteoporosis-pseudoglioma syndrome
• Osteosarcoma
• Oto-palato-digital syndrome type 1
• Oto-palato-digital syndrome type 2
• Pachydermoperiostosis
• Pacman dysplasia
• Pallister-Hall syndrome
• Paramyotonia congenita
• Parastremmatic dwarfism
• PARC syndrome
• Parkes Weber syndrome
• Patterson-Stevenson-Fontaine syndrome
• Pelvic dysplasia arthrogryposis of lower limbs
• Periodic fever, aphthous stomatitis, pharyngitis and adenitis
• Petit-Fryns syndrome
• Pfeiffer-type cardiocranial syndrome
• Phocomelia ectrodactyly deafness sinus arrhythmia
• Pigmented villonodular synovitis
• Piriformis syndrome
• Platyspondylic lethal skeletal dysplasia Torrance type
• Pleoconial myopathy with salt craving
• Poland syndrome
• Polycystic bone disease
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polydactyly myopia syndrome
• Polyostotic osteolytic dysplasia, hereditary expansile
• Potassium aggravated myotonia
• Preaxial deficiency, postaxial polydactyly and hypospadias
• Preaxial polydactyly type 1
• Preaxial polydactyly type 2
• Preaxial polydactyly type 3
• Preaxial polydactyly type 4
• Progeria
• Progressive osseous heteroplasia
• Progressive pseudorheumatoid dysplasia
• Protein C deficiency - Not a rare disease.
• Proteus syndrome
• Proximal symphalangism
• Pseudoachondroplasia
• Pseudoaminopterin syndrome
• Pseudodiastrophic dysplasia
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1C
• Pseudopseudohypoparathyroidism
• Psoriatic juvenile idiopathic arthritis
• Pycnodysostosis
• Pyknoachondrogenesis
• Pyle disease
• Pyoderma gangrenosum
• Pyogenic arthritis, pyoderma gangrenosum and acne
• Radio-ulnar synostosis type 1 - See Congenital radioulnar synostosis
• Radio-ulnar synostosis type 2 - See Congenital radioulnar synostosis
• Radioulnar synostosis-microcephaly-scoliosis syndrome
• Raine syndrome
• Ramer Ladda syndrome
• Ramon Syndrome
• Rapadilino syndrome
• Reactive arthritis
• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Retinal vasculopathy with cerebral leukodystrophy
• Rhizomelic chondrodysplasia punctata type 1
• Rhizomelic dysplasia Patterson Lowry type
• Rhizomelic syndrome
• Richieri Costa Da Silva syndrome
• Rigid spine syndrome
• Roberts syndrome
• Saethre-Chotzen syndrome
• Salla disease - See Free sialic acid storage disease
• SAPHO syndrome
• Sarcoidosis - Not a rare disease.
• Say Meyer syndrome
• Say-Field-Coldwell syndrome
• Scalp defects postaxial polydactyly
• SCARF syndrome
• Scheie syndrome
• Scheuermann disease
• Schimke immunoosseous dysplasia
• Schinzel Giedion syndrome
• Schneckenbecken dysplasia
• Schnitzler syndrome
• Schwartz Jampel syndrome
• Sclerosteosis
• Seckel syndrome
• Sepiapterin reductase deficiency
• Short rib-polydactyly syndrome type 3
• Short rib-polydactyly syndrome type 1
• Short rib-polydactyly syndrome type 4
• Short rib-polydactyly syndrome, Majewski type
• Short stature syndrome, Brussels type
• Shprintzen-Goldberg craniosynostosis syndrome
• Shwachman-Diamond syndrome
• Sickle beta thalassemia
• Sickle cell anemia
• Sillence syndrome
• Singleton-Merten syndrome
• Slipped capital femoral epiphysis - Not a rare disease.
• Small patella syndrome
• Smith McCort dysplasia
• Smith-Lemli-Opitz syndrome
• Sotos syndrome
• 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 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 5 - See Spondylocostal dysostosis
• Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
• Spondylodysplastic Ehlers-Danlos syndrome
• 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 Strudwick type
• Spondyloepimetaphyseal dysplasia with hypotrichosis
• Spondyloepimetaphyseal dysplasia with multiple dislocations
• Spondyloepimetaphyseal dysplasia X-linked
• Spondyloepimetaphyseal dysplasia, Aggrecan type
• Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia Maroteaux type
• Spondyloepiphyseal dysplasia tarda X-linked
• 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
• Spondylometaphyseal dysplasia, Kozlowski type
• Spondyloperipheral dysplasia
• Spondylothoracic dysostosis
• Sprengel deformity
• STAR syndrome
• Stickler syndrome type 1
• Stickler syndrome, type 2
• Stickler syndrome, type 3
• Stiff person syndrome
• Stuve-Wiedemann 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
• Tetra-amelia syndrome
• Tetraamelia multiple malformations X-linked
• Tetramelic monodactyly
• Thanatophoric dysplasia type 1
• Thanatophoric dysplasia type 2
• Thoracic dysplasia hydrocephalus syndrome
• Thoracolaryngopelvic dysplasia
• Thoracomelic dysplasia
• Tibia absent polydactyly arachnoid cyst
• Tietze syndrome
• TMEM165-CDG (CDG-IIk)
• Townes-Brocks syndrome
• Treacher Collins syndrome
• Tricho-dento-osseous syndrome
• Trichohepatoenteric syndrome
• Trichorhinophalangeal syndrome type 1
• Trichorhinophalangeal syndrome type 2
• Trichorhinophalangeal syndrome type 3
• Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
• Triphalangeal thumbs brachyectrodactyly
• Trochlea of the humerus aplasia of
• Trochlear dysplasia
• Troyer syndrome
• Tubular aggregate myopathy
• Tumor necrosis factor receptor-associated periodic syndrome
• Ulna and fibula, hypoplasia of
• Ulna hypoplasia-intellectual disability syndrome
• Ulna metaphyseal dysplasia syndrome
• Ulnar hypoplasia lobster claw deformity of feet
• Ulnar-mammary syndrome
• Undifferentiated pleomorphic sarcoma
• Upington disease
• Verloes Bourguignon syndrome
• Viljoen Kallis Voges syndrome
• Warman Mulliken Hayward syndrome
• Weaver syndrome
• Weill-Marchesani syndrome
• Weissenbacher-Zweymuller syndrome
• Weyers acrofacial dysostosis
• Wildervanck syndrome
• Worth type autosomal dominant osteosclerosis
• Wrinkly skin syndrome
• X-linked dominant chondrodysplasia punctata 2
• X-linked dominant scapuloperoneal myopathy
• X-linked hypophosphatemia
• X-linked intellectual disability-plagiocephaly syndrome
• Yunis-Varon syndrome

NIH genetic and rare disease info

• NIH info on List of rare musculoskeletal diseases

List of rare musculoskeletal diseases is a rare disease.