SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:
(S)= short stature
(H)= hyperextensibility of joints and/or hernia (inguinal)
(O)= ocular depression
(R) =Rieger anomaly
(T) =teething delay
Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.
SHORT syndrome is a disorder that affects multiple organ systems. This condition is characterized by short stature, joints that stretch more than usual (hyperextensibility), a particular type of intestinal hernia (inguinal), deep set eyes (ocular depression), defective development of the anterior chamber of the eye that can lead to glaucoma (Rieger anomaly) and delayed eruption of teeth.
Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears and hearing loss. Some affected individuals have speech delay and other developmental delays but intelligence is usually normal.
In addition to these features, affected infants may also have difficulty gaining weight and develop frequent illnesses. Diabetes is common in the second decade of life, usually preceded by hypoglycemia.
SHORT syndrome is a very rare syndrome that appears to be genetic but a specific gene mutation for this condition has not yet been identified. The pattern of inheritance has not been firmly established, but is most consistent with autosomal dominant.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
SHORT syndrome is a very rare disorder. The incidence of this condition can not be established because so few cases have been reported in the medical literature.
The diagnosis of SHORT syndrome is based on physical findings and X-rays. Molecular genetic testing is available on a research basis only.
No specific treatment exists for SHORT syndrome. Treatment is symptomatic and supportive.
Genetic counseling may be of benefit for patients and their families.
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Raygada M and Rennert O. SHORT Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:250.
Aarskog D, Ose L, Pande H, et al. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. AmJ Med Genet. 1983;15:29-38
Brodsky MC, Whiteside-Michel J, and Merin LM. Rieger anomaly and congenital glaucoma in the SHORT syndrome. Arch Opthamol. 1996;114:1146-1147.
Koenig R, Brendel L and Fuchs S. SHORT syndrome. Clin Dysmorph. 2003;12:45-49.
Toriello HV, Wakefield S, Komar K, et al. Report of a case and further delination of the SHORT syndrome. Am J Med Genet. 1985:22;311-314.
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McKusick VA, ed. Online Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No. 269880; Last Update: 4/28/04.