Blepharo-cheilo-odontic syndrome
Don’t fight Blepharo-cheilo-odontic syndrome alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Blepharo-cheilo-odontic syndrome and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1997
Definition
Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
Epidemiology
Prevalence is unknown. Over 50 cases have been described in literature to date.
Clinical description
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
Etiology is unknown.
Genetic counseling
Transmission is autosomal dominant with 100% penetrance.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Connect with other users with Blepharo-cheilo-odontic syndrome on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
