Details of Disease

General Information of Disease (ID: DISYV18K)

Disease Name Commissural facial cleft
Synonyms transverse cleft, isolated; lateral cleft, isolated; commissural cleft, isolated; macrostomia, isolated; macrostomia
Definition
Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Disease Hierarchy
DISXTTL9: Facial cleft
DISYV18K: Commissural facial cleft
Disease Identifiers
MONDO ID
MONDO_0013300
UMLS CUI
C3150792
OMIM ID
613545
MedGen ID
462142
Orphanet ID
141276

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTCH2 OTOQ0K9V Supportive Autosomal dominant [1]
SPECC1L OT3WGZ73 Supportive Autosomal dominant [2]
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References

1 A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. Am J Med Genet A. 2009 Mar;149A(3):521-4. doi: 10.1002/ajmg.a.32647.
2 Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23.