SHORT syndrome

Also known as: Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, teething delay

Syndrome with insulin resistance and distinctive facies.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: PIK3R1

Etiology & mechanism

PIK3R1 variants reduce PI3K signaling.

Gene(s) involved (1)

PIK3R1

Symptoms & signs (10)

deep-set eyesdelayed teethingdiabeteshyperextensible jointsinguinal herniainsulin resistancelipodystrophyrieger anomalyshort staturetriangular face

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