oblique facial clefting 1

Term ID

DOID:0111706

Synonyms

• Tessier number 4 facial cleft

Definition

An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. (3)

References

• MIM:600251

Ontology

Human Disease   ( DOID:0111706 )