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Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.
Source: GARD Last updated on 05-01-20
The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family. The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits). People with Carpenter syndrome often have intellectual disability (from mild to profound), but some affected people have normal intelligence.
Craniosynostosis prevents the skull from growing normally and can cause a pointed appearance of the head; asymmetry of the head and face; increased pressure within the skull; and characteristic facial features. Facial features may include a flat nasal bridge; down-slanting palpebral fissures (the outside corners of the eye); low-set and abnormally shaped ears; underdeveloped jaws; and abnormal eye shape. Vision problems are common. Some people also have dental abnormalities such as small baby teeth. Abnormalities of the fingers and toes may include fusion of the skin between digits; short digits; or extra digits.
Other signs and symptoms may include obesity, umbilical hernia, hearing loss, heart defects, and other skeletal abnormalities such as as deformed hips, kyphoscoliosis, and knees that angle inward. Nearly all males have genital abnormalities such as undescended testes. A few affected people have organs or tissues within the torso that are in reversed positions.
Last updated on 05-01-20
Children who have syndromic craniosynostosis are at risk for developing behavioral and emotional problems. However, we are unaware of studies regarding behavioral characteristics of people with Carpenter syndrome specifically. It has been reported that people with craniosynostosis in general may continue to have cognitive, psychological, speech, and behavioral problems, even after surgery that allows for normal cranial growth and development. Children with craniofacial abnormalities may have stigmatizing conditions such as speech defects and facial differences, which are reportedly associated with negative psychosocial outcomes such as poor psychological adjustment.
Last updated on 05-01-20
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