Pallister–Hall syndrome

Autosomal dominant - en

Pallister–Hall syndrome (PHS) is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by a wide range of symptoms and physical abnormalities, which can vary greatly among affected individuals. The syndrome is named after Judith G. Hall and Philip D. Pallister, who first described the condition.

Signs and Symptoms

Individuals with Pallister–Hall syndrome may exhibit a variety of signs and symptoms, including:

• Polydactyly (extra fingers or toes)
• Hypothalamic hamartoma (a benign brain tumor)
• Imperforate anus (a congenital defect where the opening to the anus is missing or blocked)
• Bifid epiglottis (a split epiglottis)
• Renal abnormalities (kidney malformations)
• Genitourinary anomalies (abnormalities in the genital and urinary organs)
• Respiratory distress in newborns

Genetics

Pallister–Hall syndrome is caused by mutations in the GLI3 gene, which plays a crucial role in the development of various body parts. The condition is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for an individual to be affected. However, some cases may result from new mutations with no family history of the disorder.

Diagnosis

The diagnosis of Pallister–Hall syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to detect mutations in the GLI3 gene. Prenatal diagnosis may be possible through genetic testing if there is a known family history of the condition.

Treatment

There is no cure for Pallister–Hall syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team of specialists, including:

• Pediatricians
• Geneticists
• Orthopedic surgeons
• Neurosurgeons
• Urologists
• Gastroenterologists

Specific treatments may include surgical correction of anatomical abnormalities, management of respiratory issues, and supportive therapies for developmental delays.

Prognosis

The prognosis for individuals with Pallister–Hall syndrome varies depending on the severity of symptoms and the presence of life-threatening complications. With appropriate medical care and management, many individuals can lead relatively normal lives.

Related Pages

• Polydactyly
• Hypothalamic hamartoma
• GLI3
• Autosomal dominant
• Genetic testing