Achondrogenesis type 2
|
(Orphanet:93296)
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Acrocapitofemoral dysplasia
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(Orphanet:63446)
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BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
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(OMIM:609945)
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CAMPOMELIC DYSPLASIA
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(OMIM:114290)
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CLEIDOCRANIAL DYSPLASIA
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(OMIM:119600)
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COCKAYNE SYNDROME A
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(OMIM:216400)
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COCKAYNE SYNDROME B
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(OMIM:133540)
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Campomelic dysplasia
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(Orphanet:140)
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Camptodactyly syndrome, Guadalajara type 1
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(Orphanet:1327)
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Cleidocranial dysplasia
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(Orphanet:1452)
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Cockayne syndrome
|
(Orphanet:191)
|
DYGGVE-MELCHIOR-CLAUSEN DISEASE
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(OMIM:223800)
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Down syndrome
|
(Orphanet:870)
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Dyggve-Melchior-Clausen disease
|
(Orphanet:239)
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Ellis Van Creveld syndrome
|
(Orphanet:289)
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Fuhrmann syndrome
|
(Orphanet:2854)
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Hennekam syndrome
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(Orphanet:2136)
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Hurler-Scheie syndrome
|
(Orphanet:93476)
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Jeune syndrome
|
(Orphanet:474)
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Microcephalic osteodysplastic primordial dwarfism type 2
|
(Orphanet:2637)
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Mucopolysaccharidosis type 6
|
(Orphanet:583)
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Myhre syndrome
|
(Orphanet:2588)
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Pelviscapular dysplasia
|
(Orphanet:93333)
|
Primordial short stature - microdontia - opalescent and rootless teeth
|
(Orphanet:46658)
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Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
|
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED
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(OMIM:313400)
|
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS
|
(OMIM:609616)
|
Short-rib thoracic dysplasia 1 with or without polydactyly
|
(OMIM:208500)
|
Skeletal dysplasia - epilepsy - short stature
|
(Orphanet:1858)
|
Spondyloepiphyseal dysplasia, Cantu type
|
(Orphanet:163654)
|
THORACOLARYNGOPELVIC DYSPLASIA
|
(OMIM:187760)
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Thoracolaryngopelvic dysplasia
|
(Orphanet:3317)
|
Weaver syndrome
|
(Orphanet:3447)
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
(Orphanet:163966)
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