Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.

Acronym

BCDS1

Synonyms

BCDS
BCD SYNDROME
Blepharocheilodontic syndrome
Clefting, ectropion, and conical teeth
Ectropion, inferior, with cleft lip and/or palate
Elschnig syndrome
Lagophthalmia with bilateral cleft lip and palate

Keywords

Ectodermal dysplasia