" /> Blepharocheilodontic syndrome 1 - CISMeF





Preferred Label : Blepharocheilodontic syndrome 1;

Symbol : BCDS1;

CISMeF acronym : BCDS; BCDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bcd syndrome; Blepharocheilodontic syndrome; Lagophthalmia with bilateral cleft lip and palate; Ectropion, inferior, with cleft lip and/or palate; BCDS; Elschnig syndrome; Clefting, ectropion, and conical teeth;

Description : The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cadherin 1 gene (CDH1, 192090.0024);

Prefixed ID : #119580;

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29/07/2025


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