Pagon Stephan syndrome
Overview
A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.
Symptoms
* Abnormal eye movements * Impaired vision * Learning disability * Mental retardation * Retarded growth * Short stature * Abnormal nails * Absent nails * Abnormal brain development (corpus callosum) * Leg weakness * Dilated brain ventricles * Irregular finger length * Irregular finger shape * Short big toe * Webbed fingers
Diagnosis
* Eye Tests * Vision Tests
Resources
Pagon Stephan syndrome: Another name for Septooptic dysplasia - digital anomalies