SHORT Syndrome

Synonyms of SHORT Syndrome

Growth Retardation-Rieger Anomaly
Lipodystrophy, partial, with Rieger anomaly and short stature
Reiger Anomaly-Growth Retardation
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay

General Discussion

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.

Signs & Symptoms

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.

Causes

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.

Affected Populations

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.

Related Disorders

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.)

Diagnosis

The diagnosis of SHORT syndrome is based on physical findings and X-rays. Molecular genetic testing is available on a research basis only.

Standard Therapies

Treatment

No specific treatment exists for SHORT syndrome. Treatment is symptomatic and supportive.

Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

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

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone: (301) 251-4925
- Toll-free: (888) 205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Human Growth Foundation
- 997 Glen Cove Avenue
- Suite 5
- Glen Head, NY 11545
- Phone: (516) 671-4041
- Toll-free: (800) 451-6434
- Email: hgf1@hgfound.org
- Website: http://www.hgfound.org/
Little People of America, Inc.
- 250 El Camino Real Suite 201
- Tustin, CA 92780
- Phone: (714) 368-3689
- Toll-free: (888) 572-2001
- Email: info@lpaonline.org
- Website: http://www.lpaonline.org/
MAGIC Foundation
- 6645 W. North Avenue
- Oak Park, IL 60302
- Phone: (708) 383-0808
- Toll-free: (800) 362-4423
- Email: contactus@magicfoundation.org
- Website: http://www.magicfoundation.org
NIH/National Eye Institute
- 31 Center Dr
- MSC 2510
- Bethesda, MD 20892-2510 United States
- Phone: (301) 496-5248
- Email: 2020@nei.nih.gov
- Website: http://www.nei.nih.gov/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675 USA
- Phone: (301) 495-4484
- Toll-free: (877) 226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
Restricted Growth Association
- PO Box 5137
- Yeovil, BA20 9FF United Kingdom
- Phone: (300) 111-1970
- Email: office@restrictedgrowth.co.uk
- Website: http://www.restrictedgrowth.co.uk

References

TEXTBOOKS

Raygada M and Rennert O. SHORT Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:250.

JOURNAL ARTICLES

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.

Years Published

1993, 2004, 2007

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