STAR syndrome

X-linked dominant (affected mother)

STAR syndrome is a rare genetic disorder characterized by syndactyly, telecanthus, and anogenital and renal malformations. The name STAR is an acronym derived from these primary features. This condition is inherited in an X-linked dominant manner and primarily affects females.

Signs and Symptoms

Individuals with STAR syndrome typically present with the following features:

• Syndactyly: Fusion of two or more fingers or toes.
• Telecanthus: Increased distance between the inner corners of the eyes.
• Anogenital malformations: Abnormalities in the structure of the anus and genitalia.
• Renal malformations: Abnormalities in the structure and function of the kidneys.

Additional features may include congenital heart defects, hearing loss, and skeletal abnormalities.

Genetics

STAR syndrome is caused by mutations in the FAM58A gene, which is located on the X chromosome. The disorder follows an X-linked dominant inheritance pattern, meaning that a single copy of the mutated gene in each cell is sufficient to cause the disorder. Males with the mutation typically do not survive to birth, so the condition is predominantly seen in females.

Diagnosis

Diagnosis of STAR syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the FAM58A gene. Prenatal diagnosis may be possible if there is a known family history of the disorder.

Management

There is no cure for STAR syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team of specialists, including pediatricians, geneticists, urologists, and orthopedic surgeons. Surgical interventions may be necessary to correct syndactyly and anogenital malformations. Regular monitoring of renal function is also important.

Prognosis

The prognosis for individuals with STAR syndrome varies depending on the severity of the symptoms and the presence of associated complications. Early diagnosis and appropriate management can improve the quality of life for affected individuals.

Related Pages

• Syndactyly
• Telecanthus
• Anogenital malformations
• Renal malformations
• X-linked dominant inheritance
• FAM58A gene