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Craniofacial Syndrome: Carpenter

Present at birth, Carpenter syndrome results from an early closing (fusion) of the skull’s sutures – the side (coronal) and/or top (sagittal) sutures. Although there are significant differences, Carpenter syndrome is quite similar to Apert and Pfeiffer syndromes. Carpenter syndrome is extremely rare with less than 300 known cases.

Individuals with this syndrome are typically characterized by the following differences:
• short head from front to back
• tower-shaped, or long and narrow head from top to bottom
• poorly formed eye sockets with wide-set, malformed eyes with downward sloping, inner eye skin folds
• flat nasal bridge and wide, upturned nose with large nasal openings
• small or underdeveloped jaw and a highly arched, narrow palate
• low-set, malformed ears
• short hands and fingers and toes, and possibly additional or fused fingers and toes

Additional characteristics that may be present include:
• mental deficiencies (in 75 percent of cases)
• heart defects (in one-third to one-half of cases)
• short stature
• obesity
• a single kidney

Treatment may include surgical release of any fused skull sutures, mid-face advancement, jaw surgery, eye surgery, staged orthodontics, hand reconstruction, and speech therapy.

Carpenter syndrome was named for British physician, George Carpenter (1859-1910), the first to describe it in 1901 after seeing physical similarities between two sisters and their brother.

Carpenter syndrome is also known as acrocephalopolysyndactyly type 2 (ACPS II).

What Happened?

A baby’s skull is comprised of separate bones connected by sutures, rather than fused bone. These sutures allow the skull to expand as the brain grows. If any (or all) of these sutures close prematurely, the skull cannot grow/form as it usually would, resulting in what is known as craniosynostosis.

In the case of a craniosynostosis-related syndrome, current research points to problems in the genes responsible for producing proteins to regulate cell growth rate and/or cell growth limits. Carpenter, Apert, Crouzon, Muenke, Pfeiffer, and Saethre-Chotzen syndromes fall into this craniosynostosis-related category.

The exact cause of Carpenter syndrome is unknown. Current thought is that all acrocephalopolysyndactyly (ACPS) syndromes are the results of genetic mutations. However, the specific gene responsible for Carpenter syndrome has not been identified.

There appears to be no connection between anything the mother did (or didn’t do) to cause her baby to have Carpenter syndrome. It is an autosomal recessive inherited syndrome, meaning both parents must have the particular gene in order for their child to have it. Even when both parents have the gene there is only a 25 percent chance their child will be affected. Unaffected children are carriers of Carpenter syndrome and possess the ability to pass it to their children if their partner carries the particular gene also.

What to Do?

When a child is born with a craniofacial issue, we evaluate many factors in order to develop the most effective treatment plan. We study how the child’s underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It’s imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.

In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child’s areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we’ll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures.

We must time each intervention carefully, because when we change or correct part of a child’s body, that surgery indirectly affects the body’s growth and development “messages.” Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.

Essential factors will lead to the best outcome: For our part, accurate diagnosis and a customized, expertly carried-out treatment plan are primary concerns. This applies to reconstructive surgery, as well as aesthetic surgery, to create the very best facial and corporal appearance. For your part, as the parent/family, the outcome depends on your commitment to play the key support role throughout the child’s various surgeries, physical changes, social adaptations, academic development and everyday life skills.

In all syndrome conditions, our treatment goals fall into similar categories – to give the child’s brain and all sensory organs room to grow and develop, and to make it as easy as possible for the child to breathe, eat, sleep, communicate and become as independent as possible.