Search for a rare disease
Other search option(s)
Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
ORPHA:1997Classification level: Disorder
- BCD syndrome
- Blepharocheilodontic syndrome
- Clefting-ectropion-conical teeth syndrome
- Ectropion inferior-cleft lip and/or palate syndrome
- Elschnig syndrome
- Lagophthalmia-cleft lip and palate syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Neonatal
- ICD-10: Q87.8
- OMIM: 119580 617681
- UMLS: C1861536
- MeSH: -
- GARD: 2071 3167
- MedDRA: -
Prevalence is unknown. Over 50 cases have been described in literature to date.
Blepharo-cheilo-odontic syndrome is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly.
Etiology is unknown.
Transmission is autosomal dominant with 100% penetrance.