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
Acrocephalopolydactylous dysplasia
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
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
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
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
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
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
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
Acrocephalopolydactylous dysplasia
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
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
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
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
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
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
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