Carpenter syndrome
Carpenter Syndrome
Carpenter Syndrome (pronounced: kahr-pen-ter sin-drohm), also known as acrocephalopolysyndactyly type II, is a rare genetic disorder characterized by the premature fusion of skull bones (craniosynostosis), abnormalities in the fingers and toes, and other developmental problems.
Etymology
The syndrome is named after the British paediatrician, Dr. George Alfred Carpenter, who first described it in 1901. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
Carpenter Syndrome is characterized by a number of symptoms, including:
- Craniosynostosis: The premature fusion of the skull bones, which can affect the shape of the head and face.
- Syndactyly: The fusion of two or more fingers or toes.
- Polydactyly: The presence of extra fingers or toes.
- Obesity: Many individuals with Carpenter Syndrome have a high body mass index (BMI).
- Intellectual disability: Some individuals may have learning difficulties or intellectual disability.
Causes
Carpenter Syndrome is caused by mutations in the RAB23 gene. This gene provides instructions for making a protein that is involved in the signaling pathway that controls the growth and development of cells.
Diagnosis
Diagnosis of Carpenter Syndrome is based on a clinical examination, genetic testing, and imaging studies such as CT scans or MRI to assess the severity of craniosynostosis.
Treatment
Treatment for Carpenter Syndrome is symptomatic and supportive. It may include surgery to correct craniosynostosis, physical therapy for motor skills development, and special education services for those with intellectual disability.
Prognosis
The prognosis for individuals with Carpenter Syndrome varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may experience significant health challenges.
External links
- Medical encyclopedia article on Carpenter syndrome
- Wikipedia's article - Carpenter syndrome
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