domingo, 27 de enero de 2019

Musculoskeletal Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Musculoskeletal Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Musculoskeletal Diseases

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 
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 
Sakati syndrome 
Salla 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 2 
Short rib-polydactyly syndrome type 4 
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 

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