OROFACIAL CLEFT 11

General Information (adopted from Orphanet):

Synonyms, Signs: CHCL, INCLUDED
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED
CONGENITAL HEALED CLEFT LIP, INCLUDED
OFC11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 600625
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002006) Facial cleft 25 / 7739
2
(HPO:0000202) Oral cleft hallmark [HPO] 120 / 7739
3
(OMIM) Collapsed nostril 1 / 7739
4
(OMIM) Ipsilateral notch of vermilion border 1 / 7739
5
(OMIM) Congenital 'healed' cleft lip (CHCL) 1 / 7739
6
(HPO:0001472) Familial predisposition hallmark [HPO] 3 / 7739
7
(OMIM) Paramedian upper lip 'scar' 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ...
Clinical Description OMIM Castilla and Martinez-Frias (1995) presented 25 CHCL cases, 18 of which represented an isolated malformation found among the 3,950,715 births examined in 2 similar birth defect registries, 1 in Spain and 1 in Latin America. Like open cleft ...
Molecular genetics OMIM Suzuki et al. (2009) identified mutations in the BMP4 gene (see, e.g., 112262.0003-112262.0005) in children with cleft lip and cleft palate. The parents, who also carried the mutation, only had subtle defects in the orbicularis oris muscle on ...