STAR syndrome

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Disease Overview

STAR syndrome is a very rare syndrome that affects many parts of the body. “STAR” is an acronym for the primary signs and symptoms of the syndrome:[14728]

  • Syndactyly – webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome).
  •  Telecanthus – increased distance between the inner corners of the eyes.
  •  Anogenital malformations – abnormal formation of the anus and/or genitals.
  •  Renal malformations. – abnormal formation of the kidneys.

However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a mutation or deletion affecting the FAM58A gene, also called the  CCNQ gene. In some cases, other features may be due to larger deletions that involve other genes besides the FAM58A gene. Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia, tethered spinal cord, and various other birth defects.[14728][14729]

Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported.[14728] Treatment depends on the specific features and severity in each person.


Synonyms

  • Syndactyly, telecanthus, anogenital and renal malformations
  • Toe syndactyly, telecanthus, anogenital and renal malformations

For more information, visit GARD.

National Organization for Rare Disorders