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
Al Gazali Sabrinathan Nair 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 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
Hypophosphatasia
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
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia 2
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
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
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
Ramon Syndrome
Rapadilino syndrome
Reactive arthritis
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
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
Schinzel type phocomelia
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 with immune dysregulation
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
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 syndrome
Tetramelic monodactyly
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thoracic dysplasia hydrocephalus syndrome
Thoracolaryngopelvic 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
