cerebellofaciodental syndrome

info · Syndrome

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.

Signs and symptoms

Short stature
Sparse eyebrow
Taurodontia
Macrodontia of permanent maxillary central incisor
Intellectual disability
Microcephaly
Fine hair
Scoliosis
Delayed speech and language development
Cerebellar hypoplasia

Also known as: cerebellar-facial-dental syndrome