Conditions / Syndrome
oblique facial clefting 1
info · Syndrome
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_
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.
Signs and symptoms
- Cleft palate
- Microphthalmia
- Tessier number 4 facial cleft
- Talipes calcaneovalgus
- Cleft upper lip
- Deep palmar crease
- Coloboma
Also known as: Tessier number 4 facial cleft