Chitayat Moore Del Bigio syndrome
Overview
A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies
Symptoms
* Abnormal cerebellum development * Dandy-walker anomaly * Long narrow head * Wide set eyes * Prominent back of head
Causes
Achondroplasia Adrenoleukodystrophy, autosomal, neonatal form Chitayat Meunier Hodgkinson syndrome Chitayat-Moore-Del Bigio syndrome Chromosome 14q, terminal duplication Complex 5 mitochondrial respiratory chain deficiency Congenital disorder of glycosylation type 1H Congenital disorder of glycosylation type 1K Cranioectodermal dysplasia Craniofacial dyssynostosis
Diagnosis
* Teeth anomalies * Triangular-shaped face * Low hair line at back of head * Small jaw * Muscle disease * Mental retardation * High arched palate * High forehead * Ataxia * Flat cheeks Note that Chitayat-Moore-Del Bigio syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Chitayat-Moore-Del Bigio syndrome signs may refer to those signs only noticable by a doctor.