Warsaw breakage syndrome

info · Syndrome

A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.

Signs and symptoms

Narrow forehead
Hypermelanotic macule
Epicanthus
Sloping forehead
Ventricular septal defect
Postnatal growth retardation
High palate
Cupped ear
Wide mouth
Small face

Also known as: WABS