Carpenter syndrome, also called acrocephalopolysyndactyly type II,[1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.

The most common physical manifestation of Carpenter syndrome is early fusing of the fibrous cranial sutures which results in an abnormally pointed head.

In addition to these facial abnormalities, individuals also have an underdeveloped maxilla and/or mandible with a highly arched and narrow palate which makes speech a very difficult skill to master.

Additionally, three key SNPs in the MEGF8 gene,[8] located on chromosome 19 at 19q13.2, have been identified as primary causes of Carpenter syndrome.

The diagnosis of Carpenter syndrome is made based on the presence of the bicoronal and sagittal skull malformations, which results in a pointed, cone-shaped or short, broad head.

[citation needed] In addition to the previously named complications of bicoronal craniosynostosis, many babies will also be affected by hydrocephalus, more commonly known as water on the brain.

An abnormally highly arched palate is also seen in affected individuals causing dental problems and the thrusting forward of the lower jaw.

[full citation needed] Operations to correct the malformations of the skull should be performed within the first year of infancy in patients affected by Carpenter syndrome.

Performing surgery at a young age increases the likelihood of obtaining a greatly improved appearance of the head because modifying bone is much easier to do when the skull is still constantly growing and changing.

Although the sutures are broken during surgery they will quickly refuse, and in some cases holes form in the plates allowing cerebral spinal fluid to escape into cyst like structures on the external surface of the head.

Some parents opt to have their child's webbed fingers or toes separated which improves their appearance but not necessarily the functionality of the digits.

[full citation needed] In order to address the vision problems that are associated with bicoronal craniosynostosis, the individual must seek consultation from an ophthalmologist.

Even if both parents possess the faulty gene there is still only a twenty five percent chance that they will produce a child affected by the syndrome.