Pallister-hall syndrome

Pallister-Hall syndrome

Pallister-Hall syndrome (PHS) is a rare genetic disorder characterized by a wide range of symptoms and physical abnormalities. It is caused by mutations in the GLI3 gene, which plays a crucial role in the development of various body systems during embryonic growth.

Signs and Symptoms

Individuals with Pallister-Hall syndrome may exhibit a variety of symptoms, including:

• Polydactyly (extra fingers or toes)
• Hypothalamic hamartoma (a noncancerous tumor in the hypothalamus)
• Bifid epiglottis (a split epiglottis)
• Imperforate anus (absence of an anal opening)
• Kidney abnormalities
• Respiratory distress
• Developmental delay

Genetics

Pallister-Hall syndrome is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The GLI3 gene mutations responsible for PHS affect the Hedgehog signaling pathway, which is essential for proper embryonic development.

Diagnosis

Diagnosis of Pallister-Hall syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the GLI3 gene. Prenatal diagnosis is also possible through genetic testing if there is a known family history of the disorder.

Treatment

There is no cure for Pallister-Hall syndrome, and treatment is symptomatic and supportive. Management may involve:

• Surgical correction of physical abnormalities such as polydactyly and imperforate anus
• Monitoring and management of hypothalamic hamartoma to prevent complications like seizures
• Supportive therapies for developmental delays and other associated conditions

Prognosis

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

Related Pages

• GLI3
• Polydactyly
• Hypothalamic hamartoma
• Autosomal dominant
• Hedgehog signaling pathway