Blepharo-cheilo-odontic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
CLEFTING, ECTROPION, AND CONICAL TEETH
ELSCHNIG SYNDROME
ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE
BCDS
Elsching syndrome
bcd syndrome
Lagophthalmia - cleft lip and palate
Blepharocheilodontic syndrome
Clefting - ectropion - conical teeth
Ectropion inferior - cleft lip and or palate
Number of Symptoms 26
OrphanetNr: 1997
OMIM Id: 119580
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 50 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital ectropion
 -Rare eye disease
 -Rare genetic disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
2
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
3
 (HPO:0000668) Hypodontia 81 / 7739
4
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
5
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
6
 (HPO:0007651) Ectropion of lower eyelids 2 / 7739
7
 (HPO:0000204) Cleft upper lip 193 / 7739
8
 (HPO:0001965) Abnormality of the scalp Occasional [Orphanet] 10 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0009743) Distichiasis 9 / 7739
11
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
12
 (HPO:0000698) Conical tooth 14 / 7739
13
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
14
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
15
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
16
 (HPO:0002023) Anal atresia Occasional [Orphanet] rare [HPO:skoehler] 135 / 7739
17
 (HPO:0001792) Small nail 55 / 7739
18
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Lagophthalmia (incomplete closure of eyelids) 1 / 7739
21
 (OMIM) Delayed dentition 5 / 7739
22
 (OMIM) Cleft lip and/or palate 4 / 7739
23
 (OMIM) Megaloblepharon (large eyelids) 1 / 7739
24
 (MedDRA:10058668) Clinodactyly 91 / 7739
25
 (HPO:0012905) Euryblepharon Frequent [Orphanet] 12 / 7739
26
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., ...
Clinical Description OMIM An association of ectropion of the lower eyelids, hypertelorism, and cleft lip and palate was described by Elschnig (1912), although it is not clear that Elschnig recognized the clinical constellation as a distinct entity. Allanson and McGillivray (1985) ...
Molecular genetics OMIM - Exclusion Studies

In 3 families with blepharocheilodontic syndrome, Freitas et al. (2007) screened 5 candidate genes, including P63 and IRF6, but found no mutations. In the proband of a 3-generation family segregating autosomal dominant BCDS, ...