14q22q23 microdeletion syndrome
|
(Orphanet:264200)
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1p36 deletion syndrome
|
(Orphanet:1606)
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2q31.1 microdeletion syndrome
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(Orphanet:251014)
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8q12 microduplication syndrome
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(Orphanet:228399)
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Aarskog-Scott syndrome
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(Orphanet:915)
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Abruzzo-Erickson syndrome
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(Orphanet:921)
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Achondrogenesis type 1A
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(Orphanet:93299)
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Achondrogenesis type 1B
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(Orphanet:93298)
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Acro-oto-ocular syndrome
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(Orphanet:2980)
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Acrodysostosis
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(Orphanet:950)
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Acromesomelic dysplasia, Grebe type
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(Orphanet:2098)
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Acroosteolysis, dominant type
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(Orphanet:955)
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Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
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(Orphanet:98791)
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Atypical Rett syndrome
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(Orphanet:3095)
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Borjeson-Forssman-Lehmann syndrome
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(Orphanet:127)
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Brachydactyly type A1
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(Orphanet:93388)
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Brachydactyly type A2
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(Orphanet:93396)
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Brachydactyly type A4
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(Orphanet:93394)
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Brachydactyly type B
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(Orphanet:93383)
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Brachydactyly type B2
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(Orphanet:140908)
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Brachydactyly type C
|
(Orphanet:93384)
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Brachydactyly-syndactyly, Zhao type
|
(Orphanet:93409)
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Cabezas syndrome
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(Orphanet:85293)
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Camptodactyly syndrome, Guadalajara type 1
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(Orphanet:1327)
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Camptodactyly syndrome, Guadalajara type 2
|
(Orphanet:1326)
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Cornelia de Lange syndrome
|
(Orphanet:199)
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Distal monosomy 6p
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(Orphanet:96125)
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Fine-Lubinsky syndrome
|
(Orphanet:1272)
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Geleophysic dysplasia
|
(Orphanet:2623)
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Guttmacher syndrome
|
(Orphanet:2957)
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Hand-foot-genital syndrome
|
(Orphanet:2438)
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Heart-hand syndrome type 3
|
(Orphanet:1342)
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Hirschsprung disease - type D brachydactyly
|
(Orphanet:2150)
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Hypertelorism, Teebi type
|
(Orphanet:1519)
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Hypochondroplasia
|
(Orphanet:429)
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Jacobsen syndrome
|
(Orphanet:2308)
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Jeune syndrome
|
(Orphanet:474)
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Laron syndrome
|
(Orphanet:633)
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Mesomelia-synostoses syndrome
|
(Orphanet:2496)
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Metaphyseal acroscyphodysplasia
|
(Orphanet:1240)
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Microcephaly - intellectual deficit - phalangeal and neurological anomalies
|
(Orphanet:137658)
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Mononen-Karnes-Senac syndrome
|
(Orphanet:2565)
|
Muenke syndrome
|
(Orphanet:53271)
|
Oliver syndrome
|
(Orphanet:2920)
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
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Osteocraniostenosis
|
(Orphanet:2763)
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Parastremmatic dwarfism
|
(Orphanet:2646)
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Peters-plus syndrome
|
(Orphanet:709)
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Pfeiffer syndrome type 1
|
(Orphanet:93258)
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Pfeiffer syndrome type 2
|
(Orphanet:93259)
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Pfeiffer syndrome type 3
|
(Orphanet:93260)
|
Platyspondylic dysplasia, Torrance type
|
(Orphanet:85166)
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Pseudoachondroplasia
|
(Orphanet:750)
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Pycnodysostosis
|
(Orphanet:763)
|
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
|
(Orphanet:3085)
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Short rib-polydactyly syndrome, Verma-Naumoff type
|
(Orphanet:93271)
|
Simpson-Golabi-Behmel syndrome
|
(Orphanet:373)
|
Spondyloepimetaphyseal dysplasia with joint laxity
|
(Orphanet:93359)
|
Suarez-Stickler syndrome
|
(Orphanet:166277)
|
Syndactyly type 2
|
(Orphanet:93403)
|
Syndactyly type 3
|
(Orphanet:93404)
|
Syndrome with brachydactyly
|
(Orphanet:69028)
|
Temtamy syndrome
|
(Orphanet:1777)
|
Ulnar/fibula ray defect - brachydactyly
|
(Orphanet:52056)
|
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
|
(Orphanet:3201)
|
Weill-Marchesani syndrome
|
(Orphanet:3449)
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
(Orphanet:163966)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|
Zunich-Kaye syndrome
|
(Orphanet:3474)
|