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Diseases

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
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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for SHORT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the anterior chamber 90%
Aplasia/Hypoplasia of the iris 90%
Deeply set eye 90%
Hernia of the abdominal wall 90%
Joint hypermobility 90%
Short stature 90%
Abnormal hair quantity 50%
Abnormality of adipose tissue 50%
Abnormality of dental enamel 50%
Abnormality of the pupil 50%
Diabetes mellitus 50%
Glaucoma 50%
Insulin resistance 50%
Malar flattening 50%
Megalocornea 50%
Microdontia 50%
Neurological speech impairment 50%
Weight loss 50%
Abnormality of the hip bone 7.5%
Brachydactyly syndrome 7.5%
Cheekbone underdevelopment 7.5%
Clinodactyly of the 5th finger 7.5%
Frontal bossing 7.5%
Hand polydactyly 7.5%
Hypertelorism 7.5%
Micrognathia 7.5%
Myotonia 7.5%
Nephrolithiasis 7.5%
Opacification of the corneal stroma 7.5%
Posterior embryotoxon 7.5%
Prominent supraorbital ridges 7.5%
Telecanthus 7.5%
Triangular face 7.5%
Wide nasal bridge 7.5%
Abnormality of the immune system -
Autosomal dominant inheritance -
Birth length less than 3rd percentile -
Cataract -
Chin dimple -
Clinodactyly -
Deeply set eye -
Delayed eruption of teeth -
Delayed skeletal maturation -
Delayed speech and language development -
Dental malocclusion -
Enlarged epiphyses -
Frontal bossing -
Glaucoma -
Glucose intolerance -
Hyperglycemia -
Hypodontia -
Inguinal hernia -
Insulin-resistant diabetes mellitus -
Intrauterine growth retardation -
Joint laxity -
Macrotia -
Megalocornea -
Micrognathia -
Myopia -
Prominent forehead -
Radial deviation of finger -
Rieger anomaly -
Small for gestational age -
Telecanthus -
Thin skin -
Triangular face -
Underdeveloped nasal alae -
Wide nasal bridge -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.