STAR syndrome

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STAR Syndrome

STAR syndrome (pronounced: /stɑːr sɪndroʊm/) is a rare genetic disorder that primarily affects females. The name is an acronym derived from the main features of the disorder: Short stature, Toe anomalies, Amelogenesis imperfecta, and Radial ray anomalies.

Etymology

The term "STAR" is an acronym that stands for the main features of the disorder: Short stature, Toe anomalies, Amelogenesis imperfecta, and Radial ray anomalies. The syndrome was first described in the medical literature by researchers T. Van Esch and H. Fryns in 2005.

Symptoms

The symptoms of STAR syndrome can vary but often include:

  • Short stature: Affected individuals are typically shorter than their peers.
  • Toe anomalies: This can include small or absent toes.
  • Amelogenesis imperfecta: This refers to a condition where the enamel of the teeth is not properly formed, leading to discolored, sensitive, and prone to breakage teeth.
  • Radial ray anomalies: This can include a variety of abnormalities of the thumb and/or the radius (one of the bones in the forearm).

Genetics

STAR syndrome is caused by mutations in the FAM58A gene. This gene provides instructions for making a protein that is involved in cell division. Mutations in the FAM58A gene disrupt the normal development of various parts of the body, leading to the features of STAR syndrome.

Diagnosis

Diagnosis of STAR syndrome is based on the presence of the characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment of STAR syndrome is symptomatic and supportive. Physical therapy and orthopedic interventions may be needed for skeletal abnormalities. Dental care is important for individuals with amelogenesis imperfecta.

See also

External links

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