KBG syndrome.

ABSTRACT:

Clinical description

KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormalities. The condition was named KBG syndrome after the initials of the last names of three original families reported in 1975.

Epidemiology

The prevalence of KBG syndrome is not established. There are over 100 patients reported in the literature. It is likely that KBG syndrome is underreported due to incomplete recognition and very mild presentations of the disorder in some individuals.

SUBMITTER: Morel Swols D 

PROVIDER: S-EPMC5735576 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature