Coffin syndrome 1
Overview
Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
Symptoms
* Delayed mental development * Delayed motor development * Short stature * Spasticity * Heart anomalies at birth
Diagnosis
A diagnosis of Coffin-Siris syndrome is based on a typical clinical picture. A radiological hand examination may be useful to detect hypoplasia or absence of distal phalanges, especially of the fifth finger. At present there are no biochemical or molecular tests capable of confirming the diagnosis