What is Carpenter Syndrome

Carpenter Syndrome is a rare genetic disorder that affects the development of various parts of the body. It is characterized by a combination of physical abnormalities, primarily affecting the head, hands, and feet. Individuals with Carpenter Syndrome typically have a condition called craniosynostosis, where the bones of the skull fuse together prematurely, leading to an abnormal head shape.

Other common features of Carpenter Syndrome include unusually shaped fingers and toes, such as fused or webbed digits, and short stature. Additionally, affected individuals may have intellectual disabilities, although the severity can vary widely.

The underlying cause of Carpenter Syndrome is mutations in specific genes involved in embryonic development. These genetic changes disrupt the normal formation of tissues and organs, leading to the characteristic features of the syndrome.

Diagnosis of Carpenter Syndrome is typically based on the presence of physical signs and symptoms. Genetic testing can confirm the diagnosis by identifying the specific gene mutations.

Treatment for Carpenter Syndrome focuses on managing the individual symptoms and may involve surgical interventions to correct craniosynostosis or hand and foot abnormalities. Early intervention and supportive care can help improve the quality of life for individuals with Carpenter Syndrome.