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;
Origin ID : 119580;
UMLS CUI : C4551988;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)