Short syndrome

Short syndrome is a rare genetic disorder characterized by multiple physical and developmental abnormalities. The syndrome was first described by Richard Alan Short in 1975, hence the name. The exact prevalence of Short syndrome is unknown, but it is considered extremely rare with less than 100 cases reported in the medical literature.

Characteristics

Individuals with Short syndrome typically exhibit growth retardation, a distinctive facial appearance, and a lack of subcutaneous fat. Other common features include insulin resistance, dental anomalies, and hyperextensibility of joints. Despite these physical abnormalities, intelligence is usually normal.

Growth Retardation

Growth retardation in Short syndrome is usually evident from birth, with affected individuals often having a low birth weight and length. Growth continues to be slow throughout childhood and adolescence, resulting in short stature in adulthood.

Facial Appearance

The distinctive facial appearance associated with Short syndrome includes a triangular face, small chin, deep-set eyes, large ears, and thin lips. These features become more pronounced with age.

Lack of Subcutaneous Fat

A lack of subcutaneous fat is another characteristic feature of Short syndrome. This results in a thin, aged appearance, particularly noticeable in the face and hands.

Genetics

Short syndrome is caused by mutations in the PIK3R1 gene. This gene provides instructions for making a protein that is involved in signaling pathways regulating cell growth and metabolism. Mutations in the PIK3R1 gene disrupt these pathways, leading to the various features of Short syndrome.

Diagnosis

Diagnosis of Short syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the PIK3R1 gene.

Treatment

There is currently no cure for Short syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and complications. This may include growth hormone therapy for short stature, insulin therapy for diabetes, and physiotherapy for joint hyperextensibility.

See also

• Genetic disorder
• Growth hormone therapy
• Insulin resistance

NIH genetic and rare disease info

• NIH info on Short syndrome

Short syndrome is a rare disease.

Short syndrome Resources
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