Kosaki overgrowth syndrome

Autosomal dominant - en

Kosaki overgrowth syndrome is a rare genetic disorder characterized by overgrowth, distinctive facial features, and various other abnormalities. It is named after Dr. Kenji Kosaki, who first described the syndrome.

Presentation

Individuals with Kosaki overgrowth syndrome typically exhibit macrosomia (excessive birth weight and length), macrocephaly (abnormally large head), and distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. Other common features include developmental delay, intellectual disability, and congenital heart defects.

Genetics

Kosaki overgrowth syndrome is caused by mutations in the PIK3CA gene. This gene plays a crucial role in cell growth, proliferation, and survival. Mutations in PIK3CA lead to abnormal cell growth and the various manifestations of the syndrome.

Diagnosis

Diagnosis of Kosaki overgrowth syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the PIK3CA gene. Prenatal diagnosis may be possible if a mutation is identified in a family member.

Management

There is no cure for Kosaki overgrowth syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including pediatricians, geneticists, cardiologists, and developmental specialists. Early intervention programs and special education services can help address developmental delays and intellectual disabilities.

Prognosis

The prognosis for individuals with Kosaki overgrowth syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and intervention can improve the quality of life for affected individuals.

See also

• Genetic disorder
• Overgrowth syndrome
• PIK3CA
• Developmental delay
• Intellectual disability
• Congenital heart defect

Related pages

• Genetic disorder
• Overgrowth syndrome
• PIK3CA
• Developmental delay
• Intellectual disability
• Congenital heart defect