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SHORT syndrome

ORPHA:3163· ICD-10 Q87.1

Definition

A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Neonatal