Blepharo-cheilo-odontic syndrome
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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
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Bilateral cleft lip and palate |
| Skin fragility with non-scarring blistering |
| Increased hepatic glycogen content |
| Distichiasis |
| Ectropion of lower eyelids |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hypertelorism |
| Carious teeth |
| Increased anterioposterior diameter of thorax |
| Bladder exstrophy |
| Conductive hearing impairment |
| Euryblepharon |
| Finger syndactyly |
| Abnormality of vision |
| Conical tooth |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Polar cataract |
| Celiac disease |
| Abnormal hair quantity |
| Anal atresia |
| Epidermoid cyst |
1%-4% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Optic nerve hypoplasia |
| High anterior hairline |
| Epigastric auras |
| Frontal polymicrogyria |
| Choanal atresia |
| Cutaneous syndactyly |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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