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.

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Short syndrome - alternating bradycardia tachycardia.