ALDH18A1-related De Barsy syndrome
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(Orphanet:35664)
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Acro-osteolysis-keloid-like lesions-premature aging syndrome
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(Orphanet:363665)
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Acroosteolysis, dominant type
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(Orphanet:955)
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Autosomal recessive cutis laxa type 1
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(Orphanet:90349)
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BRUCK SYNDROME 2
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(OMIM:609220)
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Bruck syndrome
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(Orphanet:2771)
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CHROMOSOME 16q22 DELETION SYNDROME
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(OMIM:614541)
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CLEIDOCRANIAL DYSPLASIA
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(OMIM:119600)
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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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Cole-Carpenter syndrome
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(Orphanet:2050)
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Congenital osteogenesis imperfecta - microcephaly - cataracts
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(Orphanet:2772)
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Cranio-osteoarthropathy
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(Orphanet:1525)
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Craniosynostosis - fibular aplasia
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(Orphanet:1533)
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De Barsy syndrome
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(Orphanet:2962)
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Dysostosis, Stanescu type
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(Orphanet:1798)
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Ehlers-Danlos syndrome, hypermobility type
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(Orphanet:285)
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Frank-Ter Haar syndrome
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(Orphanet:137834)
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Geroderma osteodysplastica
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(Orphanet:2078)
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Grant syndrome
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(Orphanet:2097)
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Gómez-López-Hernández syndrome
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(Orphanet:1532)
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HAJDU-CHENEY SYNDROME
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(OMIM:102500)
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Hallermann-Streiff syndrome
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(Orphanet:2108)
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Hereditary sensory and autonomic neuropathy type 2
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(Orphanet:970)
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Hirsutism - skeletal dysplasia - intellectual deficit
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(Orphanet:2156)
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LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE
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(OMIM:601356)
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Lateral meningocele syndrome
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(Orphanet:2789)
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Mandibuloacral dysplasia
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(Orphanet:2457)
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Mandibuloacral dysplasia with type A lipodystrophy
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(Orphanet:90153)
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Menkes disease
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(Orphanet:565)
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OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIANBONES, BUT WITHOUT FRACTURES
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(OMIM:166230)
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OSTEOGENESIS IMPERFECTA, TYPE I
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(OMIM:166200)
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OSTEOGENESIS IMPERFECTA, TYPE II
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(OMIM:166210)
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OSTEOGENESIS IMPERFECTA, TYPE III
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(OMIM:259420)
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OSTEOGENESIS IMPERFECTA, TYPE IV
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(OMIM:166220)
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OSTEOGENESIS IMPERFECTA, TYPE IX
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(OMIM:259440)
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OSTEOGENESIS IMPERFECTA, TYPE V
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(OMIM:610967)
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OSTEOGENESIS IMPERFECTA, TYPE VII
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(OMIM:610682)
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OSTEOGENESIS IMPERFECTA, TYPE VIII
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(OMIM:610915)
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OSTEOGENESIS IMPERFECTA, TYPE XII
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(OMIM:613849)
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OSTEOGENESIS IMPERFECTA, TYPE XIII
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(OMIM:614856)
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OTOFACIOOSSEOUS-GONADAL SYNDROME
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(OMIM:601976)
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Orofaciodigital syndrome type 2
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(Orphanet:2751)
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Osteogenesis imperfecta
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(Orphanet:666)
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Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
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(Orphanet:2773)
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Osteogenesis imperfecta type 1
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(Orphanet:216796)
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Osteogenesis imperfecta type 2
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(Orphanet:216804)
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Osteogenesis imperfecta type 3
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(Orphanet:216812)
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Osteogenesis imperfecta type 4
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(Orphanet:216820)
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Osteogenesis imperfecta type 5
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(Orphanet:216828)
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Osteoporosis - macrocephaly - blindness - joint hyperlaxity
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(Orphanet:2787)
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Otopalatodigital syndrome
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(Orphanet:669)
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Otopalatodigital syndrome type 2
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(Orphanet:90652)
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Potocki-Shaffer syndrome
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(Orphanet:52022)
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Pycnodysostosis
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(Orphanet:763)
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SC PHOCOMELIA SYNDROME
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(OMIM:269000)
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SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
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(OMIM:613320)
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Schinzel-Giedion syndrome
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(Orphanet:798)
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Schwartz-Jampel syndrome
|
(Orphanet:800)
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Short stature - wormian bones - dextrocardia
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(Orphanet:2863)
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Spondyloepimetaphyseal dysplasia, Bieganski type
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(Orphanet:168448)
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Spondyloepimetaphyseal dysplasia, Shohat type
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(Orphanet:93352)
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Suarez-Stickler syndrome
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(Orphanet:166277)
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Van Regemorter-Pierquin-Vamos syndrome
|
(Orphanet:3419)
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Wrinkly skin syndrome
|
(Orphanet:2834)
|