2q31.1 microdeletion syndrome
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(Orphanet:251014)
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Acro-pectoro-renal dysplasia
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(Orphanet:956)
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Acrofacial dysostosis, Rodriguez type
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(Orphanet:1788)
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Alopecia-intellectual deficit syndrome
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(Orphanet:2850)
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Amniotic bands
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(Orphanet:1034)
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Angio-osteohypertrophic syndrome
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(Orphanet:2346)
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Autosomal dominant popliteal pterygium syndrome
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(Orphanet:1300)
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Autosomal recessive Robinow syndrome
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(Orphanet:1507)
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Baller-Gerold syndrome
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(Orphanet:1225)
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Cantrell pentalogy
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(Orphanet:1335)
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Cenani-Lenz syndrome
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(Orphanet:3258)
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Charlie M syndrome
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(Orphanet:1406)
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Cooks syndrome
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(Orphanet:1487)
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Cornelia de Lange syndrome
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(Orphanet:199)
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Craniosynostosis, Herrmann-Opitz type
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(Orphanet:2145)
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EEC syndrome
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(Orphanet:1896)
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EEM syndrome
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(Orphanet:1897)
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Ectodermal dysplasia syndrome
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(Orphanet:79373)
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Ectrodactyly - polydactyly
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(Orphanet:1892)
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Femur-fibula-ulna complex
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(Orphanet:2019)
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Fibular aplasia - ectrodactyly
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(Orphanet:1118)
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Focal dermal hypoplasia
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(Orphanet:2092)
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Fuhrmann syndrome
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(Orphanet:2854)
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Gollop-Wolfgang complex
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(Orphanet:1986)
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Hartsfield-Bixler-Demyer syndrome
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(Orphanet:2117)
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Hypoglossia - hypodactyly
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(Orphanet:989)
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Ichthyosis follicularis - alopecia - photophobia
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(Orphanet:2273)
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Karsch-Neugebauer syndrome
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(Orphanet:2329)
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Limb transversal defect - cardiac anomaly
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(Orphanet:2492)
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Microgastria - limb reduction defect
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(Orphanet:2538)
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Microphthalmia with limb anomalies
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(Orphanet:1106)
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Mirror polydactyly - vertebral segmentation - limbs defects
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(Orphanet:3004)
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Mullerian duct anomalies - limb anomalies
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(Orphanet:2491)
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Orofaciodigital syndrome type 10
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(Orphanet:2756)
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Phocomelia - ectrodactyly - deafness - sinus arrhythmia
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(Orphanet:2878)
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Phocomelia, Schinzel type
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(Orphanet:2879)
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Poland syndrome
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(Orphanet:2911)
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Postaxial tetramelic oligodactyly
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(Orphanet:2730)
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Radius absent - anogenital anomalies
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(Orphanet:3016)
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Ring chromosome 4
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(Orphanet:1447)
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Shoulder and thorax deformity - congenital heart disease
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(Orphanet:1940)
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Smith-Lemli-Opitz syndrome
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(Orphanet:818)
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Split hand-split foot malformation
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(Orphanet:2440)
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Tetramelic monodactyly
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(Orphanet:2564)
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Thalidomide embryopathy
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(Orphanet:3312)
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Tibial aplasia - ectrodactyly
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(Orphanet:3329)
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Triphalangeal thumbs - brachyectrodactyly
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(Orphanet:2947)
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Trisomy 13
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(Orphanet:3378)
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Ulnar hypoplasia - split foot
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(Orphanet:1122)
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Ulnar-mammary syndrome
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(Orphanet:3138)
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Ulnar/fibula ray defect - brachydactyly
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(Orphanet:52056)
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