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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
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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

  1. SHORT syndrome. NORD. August 17, 2007; Accessed 11/1/2011.
  2. Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun. SHORT syndrome. Clinical Dysmorphology. January 2003; 12(1):45-49.