SHORT syndrome
SHORT syndrome
An extremely rare (25 cases in world literature) condition, characterised by multiple birth defects, which are contained in the acronym SHORT:– Short stature;
– Hyperextensibility of joints and/or inguinal hernia;
– Ocular depression;
– Rieger anomaly; and
– Teething delay.
Other findings include a triangular face, small dimpled chin, decreased subcutaneous fat, malpositioned ears, hearing loss and delayed speech.