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Ectrodactyly-ectodermal dysplasia and cleft lip / palate (EEC) syndrome
Relevant markers:
Choanal atresiaEctrodactyly/cleft of handsMegaureterMicrognathia/retrognathiaMidface/maxillary hypoplasiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaSemilobar holoprosencephalyUreteroceleParents markers:Cleft in hard palateCleft lipEarsGenitalsPyelectasis/hydronephrosisRenal agenesisSyndactyly of fingers
Involved genes:
(gene — definition — chromosome)7q11.2-q21.3, TP63 — 3q28 Inheritance mode: AD Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database References: 2012 Int J Gynaecol Obstet Case report Read on PubMed 2012 J Clin Imaging Sci Case report Read on PubMed Login for more details.