Branchial arch syndrome X-linked

December 31, 2014

Overview

Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.

Symptoms

* Absent eyebrows * Reduced eyebrows * Epicanthic folds * Impaired hearing * Downslanted eye slits

Diagnosis

The manifestations of X-linked Opitz G/BBB syndrome can be divided into major and minor findings based on frequency of occurrence. Major findings * Ocular hypertelorism and/or telecanthus (found in 100% of affected individuals) * All degrees of hypospadias that, in the most severe form, can be associated with renal malformations (90%) * Laryngo-tracheo-esophageal abnormalities, primarily laryngeal cleft, resulting in swallowing difficulties and respiratory dysfunction (70%)