SHORT syndrome


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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.

Short,

D.S.,
Short syndrome - alternating bradycardia tachycardia.
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References in periodicals archive ?
Differential diagnosis in the infant include: short syndrome, neonatal progeroid syndrome, neurometabolic lysosomal storage disorder (Gaucher type 2, Krabbe disease), Russell diencephalic syndrome; in older children, Dunningan lipodistrophy, Rabson-Mendenhall syndrome, insulin-dependent diabetes mellitus; and in adults, Barraquer-Simons syndrome, AIDS, partial lipodistrophy and Lawrence syndrome (9).

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