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Genetic and Rare Diseases Information Center (GARD)

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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.

Overview

What is SHORT syndrome?

What are the signs and symptoms of SHORT syndrome?

How is SHORT syndrome inherited?

What is SHORT syndrome?

SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints 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. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. The condition appears to be inherited in an autosomal dominant manner. Treatment focuses on the specific symptoms present in each individual.[1]
Last updated: 11/2/2011

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

How is SHORT syndrome inherited?

Several familial cases of SHORT syndrome have been described, and they all support autosomal dominant inheritance. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected.[2]
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.


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.