OROFACIAL CLEFT 1

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP/PALATE, NONSYNDROMIC
OROFACIAL CLEFT, NONSYNDROMIC
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1
OFC
OFC1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 119530
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000175) Cleft palate 349 / 7739
2
(HPO:0000204) Cleft upper lip 193 / 7739
3
(OMIM) Nonsyndromic cleft lip with or without cleft palate 1 / 7739
4
(HPO:0001425) Heterogeneous 132 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Several studies had demonstrated an association between facial shape in parents and the presence of oral clefts in their offspring. It was assumed that facial shape was one predisposing component among many in a multifactorial model of inheritance. ...
Molecular genetics OMIM In 3 patients with cleft lip/palate who had balanced translocations involving 6p and had previously been studied by Davies et al. (1995), Davies et al. (2004) refined the breakpoint regions and identified 2 positional candidate genes, TFAP2A (107580) ...
Population genetics OMIM Murray et al. (1997) reported the results of epidemiologic studies of CL/P ascertained from 6 sites within the Philippines between 1989 and 1996. The findings included a birth prevalence of 1.94 per 1,000 live births for CL/P. Recurrence ...