SHORT Syndrome Q87.-

Gorlin, 1975

SHORT syndrome is caused by a heterozygous mutation in the PIK3R1 gene (171833) on chromosome 5q13. 'Short', is the acronym for: S = stature; H = hyperextensibility of joints or hernia or both; O = ocular depression; R = Rieger anomaly; T = teething disorder. The name comes from Gorlin (1975), who described the syndrome in 2 brothers.

Sensenbrenner et al (1975) described a 6-year-old girl with Rieger anomaly, short stature, and partial lipodystrophy of the face and upper limbs. She also had delayed tooth eruption, delayed bone age, and hyperextensibility of the joints.

Gorlin (1975) reported the same condition in two brothers aged 11 and 4 years. Gorlin (1975) suspected an autosomal recessive inheritance because there may have been consanguinity in one pair of parents.

Aarskog et al (1983) described a family of four individuals in three generations who had nonprogressive lipodystrophy that appeared in infancy and affected mainly the face and buttocks. The affected individuals also had Rieger anomaly, midface hypoplasia, delayed bone age, and hypotrichosis. Of 2 sisters, one had glucose intolerance at age 55 years and the other had insulinopenic diabetes mellitus at age 39 years. Aarskog et al (1983) suggested that the disorder in their family was different from SHORT syndrome because their patients lacked joint hypermobility and had less pronounced lipodystrophy.

1. Aarskog D et al (1983) Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet 15: 29-38.
2. Sensenbrenner JA et al (1975) A low birthweight syndrome, ?Rieger syndrome. Birth Defects Orig Art Ser XI(2): 423-426.
3. Sorge G et al (1996) SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet 61: 178-181.
4. Thauvin-Robinet C et al (2013) PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet 93: 141-149.
5. Toriello HV et al (1985) Report of a case and further delineation of the SHORT syndrome. Am J Med Genet 22: 311-314.