10q22.3q23.3 microduplication syndrome
|
(Orphanet:276422)
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Acro-renal-mandibular syndrome
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(Orphanet:958)
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Acrocallosal syndrome
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(Orphanet:36)
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Arthrogryposis-like syndrome
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(Orphanet:1149)
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Auriculoosteodysplasia
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(Orphanet:114)
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Autosomal dominant osteosclerosis, Worth type
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(Orphanet:2790)
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Bazex-Dupré-Christol syndrome
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(Orphanet:113)
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Blepharophimosis - radioulnar synostosis
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(Orphanet:1256)
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Brachydactyly-long thumb syndrome
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(Orphanet:2946)
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CLEIDOCRANIAL DYSPLASIA
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(OMIM:119600)
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Chondrodysplasia, Blomstrand type
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(Orphanet:50945)
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Cleidocranial dysplasia
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(Orphanet:1452)
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Cleidorhizomelic syndrome
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(Orphanet:1453)
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Cloverleaf skull - multiple congenital anomalies
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(Orphanet:93267)
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Coffin-Siris syndrome
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(Orphanet:1465)
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Congenital pseudoarthrosis of clavicle
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(Orphanet:66630)
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Crane-Heise syndrome
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(Orphanet:1512)
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Craniofrontonasal dysplasia
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(Orphanet:1520)
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Craniosynostosis - anal anomalies - porokeratosis
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(Orphanet:85199)
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Diastrophic dwarfism
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(Orphanet:628)
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Ear-patella-short stature syndrome
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(Orphanet:2554)
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Familial osteodysplasia, Anderson type
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(Orphanet:2769)
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Floating-Harbor syndrome
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(Orphanet:2044)
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Focal dermal hypoplasia
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(Orphanet:2092)
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Fukuda-Miyanomae-Nakata syndrome
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(Orphanet:2060)
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GAPO syndrome
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(Orphanet:2067)
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Genochondromatosis type 1
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(Orphanet:85197)
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Hallermann-Streiff syndrome
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(Orphanet:2108)
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Heart-hand syndrome type 2
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(Orphanet:1350)
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Hirsutism - skeletal dysplasia - intellectual deficit
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(Orphanet:2156)
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Hurler syndrome
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(Orphanet:93473)
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Hutchinson-Gilford progeria syndrome
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(Orphanet:740)
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Hyperostosis corticalis generalisata
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(Orphanet:3416)
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IVIC syndrome
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(Orphanet:2307)
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Jeune syndrome
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(Orphanet:474)
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Juvenile Paget disease
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(Orphanet:2801)
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Lenz-Majewski hyperostotic dwarfism
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(Orphanet:2658)
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Lethal Kniest-like dysplasia
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(Orphanet:2347)
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Lethal restrictive dermopathy
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(Orphanet:1662)
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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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Mandibuloacral dysplasia with type B lipodystrophy
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(Orphanet:90154)
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Marden-Walker syndrome
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(Orphanet:2461)
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Microcephalic osteodysplastic primordial dwarfism types 1 and 3
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(Orphanet:2636)
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Microcephaly - cervical spine fusion anomalies
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(Orphanet:2522)
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Microgastria - limb reduction defect
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(Orphanet:2538)
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Microphthalmia, Lenz type
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(Orphanet:568)
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Mucopolysaccharidosis type 3
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(Orphanet:581)
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Occipital horn syndrome
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(Orphanet:198)
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Oculodentodigital dysplasia
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(Orphanet:2710)
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Osteocraniostenosis
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(Orphanet:2763)
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Osteodysplasty, Melnick-Needles type
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(Orphanet:2484)
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Osteoglophonic dwarfism
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(Orphanet:2645)
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Otofaciocervical syndrome
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(Orphanet:2792)
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PAGOD syndrome
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(Orphanet:991)
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Pelvis-shoulder dysplasia
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(Orphanet:2839)
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Pseudoleprechaunism syndrome, Patterson type
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(Orphanet:2976)
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Pycnodysostosis
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(Orphanet:763)
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Pyle disease
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(Orphanet:3005)
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Schinzel-Giedion syndrome
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(Orphanet:798)
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Schneckenbecken dysplasia
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(Orphanet:3144)
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Severe achondroplasia - developmental delay - acanthosis nigricans
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(Orphanet:85165)
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Short rib-polydactyly syndrome
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(Orphanet:1505)
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Shoulder and thorax deformity - congenital heart disease
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(Orphanet:1940)
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Spondylometaphyseal dysplasia, Kozlowski type
|
(Orphanet:93314)
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Thoracolaryngopelvic dysplasia
|
(Orphanet:3317)
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Torticollis - keloids - cryptorchidism - renal dysplasia
|
(Orphanet:3341)
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Ulnar-mammary syndrome
|
(Orphanet:3138)
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Yunis-Varon syndrome
|
(Orphanet:3472)
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Zunich-Kaye syndrome
|
(Orphanet:3474)
|