National Organization for Rare Disorders, Inc.
It is possible that the main title of the report SHORT Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Growth Retardation-Rieger Anomaly
- Reiger Anomaly-Growth Retardation
- Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay
- Lipodystrophy, partial, with Rieger anomaly and short stature
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Rieger Syndrome
- Russell-Silver Syndrome
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.
Symptoms of the following disorders can be similar to those of SHORT syndrome. Comparisons may be useful for a differential diagnosis:
Rieger syndrome is a rare disorder inherited as an autosomal dominant trait. The main characteristics of this disorder are facial, dental and eye abnormalities. Facial characteristics include a small jaw, broad nasal bridge and/or a protruding lower lip. (For more information on this disorder choose "Rieger" as your search term in the Rare Disease Database.)
Russell-Silver syndrome is a rare disorder characterized by short stature, a small triangular-shaped face, short arms, and light brown spots on the skin (cafe-au-lait spots). The corners of the mouth turn downward and short incurved fifth fingers are apparent. Intelligence is often normal although in some cases mental retardation may occur. (For more information on this disorder, choose "Russell-Silver" as your search term in the Rare Disease Database.)
Seckel syndrome is an extremely rare inherited disorder characterized by short stature, an abnormally small head (microcephaly), varying degrees of mental retardation and/or unusual characteristic facial features including "beak-like" protrusion of the nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathia). In addition, some affected infants may exhibit permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, dislocation of a bone in the forearm (radial dislocation), and/or other physical abnormalities. Seckel syndrome is thought to be inherited as an autosomal recessive genetic trait. (For more information on this disorder, chose "Seckel" as your search term in the Rare Disease Database.)
Leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system (i.e., the system of glands that secrete hormones into the blood system). Affected infants may also have distinctive characteristics of the head and face (craniofacial region), low birth weight, skin abnormalities, and enlargement of the breast and clitoris in females and the penis in males. Leprechaunism is inherited as an autosomal recessive genetic trait. (For more information on this disorder, chose "leprechaunism" as your search term in the Rare Disease Database.)
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.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
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.
FROM THE INTERNET
McKusick VA, ed. Online Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No. 269880; Last Update: 4/28/04.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
Restricted Growth Association
PO Box 5137
Yeovil, BA20 9FF
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 8/17/2007
Copyright 1993, 2004, 2007 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.