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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1997
Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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