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SHORT syndrome

Synonyms
LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE; SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY; Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: SHORT Syndrome
SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
A Micheil Innes
David A Dyment
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Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AGM7, GRB1, IMD36, p85, p85-ALPHA, p85alpha, PIK3R1
    Summary: phosphoinositide-3-kinase regulatory subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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