General Information About Carpenter Syndrome
Disease Details and Frequently Asked Questions
It is a hereditary and structural developmental disorder where the skull joints (sutures) fuse much earlier than they should, accompanied by finger anomalies and sometimes intellectual disability.
When a baby is born, its brain continues to grow rapidly. If the skull bones fuse prematurely (craniosynostosis), the brain cannot find space to develop, intracranial pressure increases, and this leads to permanent brain damage.
Webbing of the fingers and toes (syndactyly), having an extra number of digits (polydactyly), and the fingers being abnormally short (brachydactyly) are commonly seen.
Although it varies depending on the severity of the disease, varying degrees of intellectual disability (mental retardation), from mild to severe, are observed in most patients.
When the baby is born, an asymmetrical head shape and finger anomalies give the physician clinical clues. The premature closure of bones is confirmed by an X-ray or CT scan of the skull, and the diagnosis is finalized with a genetic test.
Treatment is entirely surgical. Before the baby turns 1 year old, the skull bones are broken/opened by neurosurgeons to create room for the brain to grow. Plastic surgeons separate the webbed fingers and toes, restoring finger functions.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
