Carpenter Syndrome synonyms
What other names are the Carpenter Syndrome known by? Synonyms and other terms with which Carpenter Syndrome is known.
Carpenter Syndrome, also known as Acrocephalopolysyndactyly Type II, is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of the skull bones, leading to an abnormally shaped head. This condition affects multiple body systems, resulting in various physical abnormalities.
Synonyms for Carpenter Syndrome:
- Acrocephalopolysyndactyly Type II
- ACPS II
- Carpenter-Cutaneous Syndrome
- Craniofacial Dysostosis Type II
- Acrocephalopolysyndactyly Type 2
Individuals with Carpenter Syndrome typically have a high, prominent forehead, wide-set eyes, and a beaked nose. They may also exhibit fusion of the fingers and toes, known as syndactyly, and additional abnormalities in the limbs, such as extra fingers or toes (polydactyly). The severity of these physical features can vary among affected individuals.
Other key characteristics of Carpenter Syndrome include:
- Intellectual disability
- Delayed development
- Hearing loss
- Heart defects
- Obesity
- Respiratory problems
- Genital abnormalities
Due to the complex nature of Carpenter Syndrome, a multidisciplinary approach involving various medical specialists is often required for diagnosis and management. Genetic testing can confirm the presence of mutations in the RAB23 gene, which is associated with this syndrome.
Treatment for Carpenter Syndrome focuses on addressing the specific symptoms and complications experienced by each individual. This may involve surgical interventions to correct craniosynostosis, syndactyly, or other physical abnormalities. Additionally, supportive therapies such as physical therapy, speech therapy, and educational interventions can help individuals with developmental delays and intellectual disabilities.
It is important for individuals with Carpenter Syndrome to receive ongoing medical care and support to manage their unique needs and optimize their quality of life.
