Cousin Walbraum Cegarra syndrome

Overview

A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.

Symptoms

* Premature fusion of skull bones * Facial anomalies * Short limbs * Retarded fetal growth * Still birth

Causes

Adrenoleukodystrophy, autosomal, neonatal form Chitayat-Moore-Del Bigio syndrome Chromosome 14q, terminal duplication Congenital disorder of glycosylation type 1H Congenital disorder of glycosylation type 1K Craniomicromelic syndrome Craniosynostosis Fontaine type Dinno-Shearer-Weisskopf syndrome Infantile spasms - broad thumbs