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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

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.