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

12q14 microdeletion syndrome 
2q37 deletion syndrome 
3M syndrome 
Absence of Tibia 
Absence of tibia with polydactyly 
Absent patella 
Achondrogenesis type 1A - See Achondrogenesis 
Achondrogenesis type 1B - See Achondrogenesis 
Achondrogenesis type 2 - See Achondrogenesis 
Acro-pectoro-renal field defect 
Acrocallosal syndrome, Schinzel type 
Acrocapitofemoral dysplasia 
Acrocephalopolydactylous dysplasia 
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 
Amyotrophy, neurogenic scapuloperoneal, New England type 
Anauxetic dysplasia 
Angel shaped phalangoepiphyseal dysplasia 
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 
Atelosteogenesis type 1 
Atelosteogenesis type 2 
Atelosteogenesis type 3 
Auriculo-condylar syndrome 
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 
Camptodactyly arthropathy coxa vara pericarditis syndrome 
Camptodactyly syndrome Guadalajara type 2 
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 
Cerebro-costo-mandibular syndrome 
Cervical dystonia 
Charlie M syndrome 
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 
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 
CODAS syndrome 
Coffin-Siris syndrome 
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 
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 
Diastrophic dysplasia 
Dihydropyrimidine dehydrogenase deficiency - Not a rare disease 
Dyggve-Melchior-Clausen syndrome 
Dyschondrosteosis nephritis 
Dysplasia epiphysealis hemimelica 
Dyssegmental dysplasia Rolland-Desbuquois type 
Dyssegmental dysplasia Silverman-Handmaker type 
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 
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 
Fuhrmann syndrome 
Gaucher disease type 1 
Gaucher disease type 3 
Geleophysic dwarfism 
Genitopatellar syndrome 
Genoa syndrome 
Geroderma osteodysplastica 
Ghosal hematodiaphyseal dysplasia syndrome 
Giant cell tumor of bone 
Glass-Chapman-Hockley syndrome 
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 
Hay-Wells 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 Rudd Hoffmann syndrome 
Hunter-McAlpine syndrome 
Hurler syndrome 
Hurler–Scheie syndrome 
Hyaline fibromatosis syndrome 
Hyper-IgD syndrome 
Hyperostosis corticalis generalisata 
Hyperphosphatemic familial tumoral calcinosis 
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 

No hay comentarios:

Publicar un comentario