Bd syndrome

Overview

A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.

Symptoms

* Small eyes * Mental retardation * Athetosis * Missing teeth * Abnormal dermatoglyphics

Causes

A genetic cause, i.e., a gene mutation with pleiotropic effects, is suggested. This may involve an autosomal recessive trait, an autosomal dominant new mutation, or an X-linked dominant-hemizygous lethal trait. * Argininosuccinase lyase deficiency * Argininosuccinic aciduria * Autoimmune thyroid diseases * Basaran-Yilmaz syndrome * BIDS syndrome