Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

SHORT syndrome


Other Names for this Disease
  • Aarskog-Ose-Pande syndrome
  • Partial lipodystrophy with Rieger anomaly and short stature
  • Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms


Newline Maker

What are the signs and symptoms of SHORT syndrome?

SHORT syndrome is a disorder that affects multiple parts of the body. It is mainly characterized by several features that are represented by the acronym SHORT: (S) short stature; (H) hyperextensible joints (joints that stretch more than usual) and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay.[1] A loss of fat under the skin (lipodystrophy), usually most prominent in the face and upper body, is also a main feature of the syndrome.[1][2]

Affected individuals often have additional, distinctive, facial features including a small chin with a dimple; triangular-shaped face; prominent forehead; abnormal positioning of the ears; large ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging (progeria).[1][2]

Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood.[1][2] Hearing loss is common. Affected infants may have difficulty gaining weight and may be prone to illnesses. Individuals may also develop diabetes in the second decade of life.[1]
Last updated: 11/2/2011

References
  1. SHORT syndrome. NORD. August 17, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/938/viewAbstract. Accessed 11/1/2011.
  2. Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun. SHORT syndrome. Clinical Dysmorphology. January 2003; 12(1):45-49.