SHORT Syndrome is a rare condition associated with mutations in PIK3R1.

Chromosome: 5q13.1

Gene: PIK3R1 (Phosphatidylinositol 3-kinase regulatory subunit alpha)


Inheritance: autosomal dominant


Key features:

(S) short stature

(H) hyperextensibility

(O) ocular depression (deep-set eyes)

(R) Rieger anomaly (Axenfeld-Rieger anomaly, related ocular anterior chamber dysgenesis)

(T) teething delay


Additional clinical findings:

(1) mild intrauterine growth retardation (IUGR)

(2) partial lipodystrophy

(3) dysmorphic facial features

(4) insulin resistance with later diabetes

(5) sensorineural hearing loss

(6) variable speech delay

(7) variable nephrocalcinosis

(8) variable microcephaly with developmental delay


Facial features:

(1) triangular shape

(2) broad forehead

(3) deep-set eyes

(4) narrow tip to the nose with thin nasal alae

(5) relatively small lower half of the face

(6) downturn to corners of the mouth

(7) prominent ears

(8) dimpled chin


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