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blepharocheilodontic syndrome

MONDO:0007339Mondo

Findings

No curated finding names blepharocheilodontic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

Definition from the Mondo Disease Ontology (MONDO:0007339), read 2026-09-29. CC BY 4.0.

Features

14 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Abnormal eyelid morphologyHPOHP:0000492
- Very frequent (80% to 99% of cases)
DistichiasisHPOHP:0009743
- Very frequent (80% to 99% of cases)
Ectropion of lower eyelidsHPOHP:0007651
- Very frequent (80% to 99% of cases)
Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
Conical toothHPOHP:0000698
- Frequent (30% to 79% of cases)
EuryblepharonHPOHP:0012905
- Frequent (30% to 79% of cases)
Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Abnormal hair quantityHPOHP:0011362
- Occasional (5% to 29% of cases)

Show the remaining 2

Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
Epidermoid cystHPOHP:0200040
- Occasional (5% to 29% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

CDH1HGNC:1748
- Supportive · Orphanet · Autosomal dominant · 2021
CTNND1HGNC:2515
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: autosomal dominant disease
congenital ectropion
ectodermal dysplasia syndrome
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Narrower terms (3): blepharocheilodontic syndrome 1
blepharocheilodontic syndrome 2
Martinez Monasterio Pinheiro syndrome

Other names

7 names

Resolves to: blepharocheilodontic syndrome

Also called: BCD syndromeblepharo-cheilo-odontic syndromeclefting-ectropion-conical teeth syndromeectropion inferior-cleft lip and or palate syndromeectropion inferior-cleft lip and/or palate syndromeElsching syndromelagophthalmia-cleft lip and palate syndrome