What is Carpenter Syndrome? (Definition)
(Symptoms, Causes & Treatment)
Carpenter Syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly. The most common physical manifestation of Carpenter Syndrome is early fusing of the fibrous cranial sutures (craniosynostosis) which results in an abnormally pointed head. The condition also presents abnormalities of the fingers and toes, and other developmental problems.
According to the U.S. Library of Medicine, Craniosynostosis prevents the skull from growing normally, and can give the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can also affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). People with Carpenter syndrome can also develop facial features which may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.
See below for updated news and information regarding Carpenter Syndrome including new medical research, treatment options and advancements.
Latest Carpenter Syndrome Research – Treatment News, Discoveries and Findings
No recent news regarding Carpenter Syndrome is available.
Clinical Resources: Treatment Therapies & Guidelines
Clinical Trials – Investigational Therapies
For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll Free: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search
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