Pediatric Carpenter Syndrome
What is Carpenter Syndrome?
Carpenter syndrome is an extremely rare congenital (present at birth) disorder that causes abnormal growth of a baby’s skull, fingers, and toes. Babies born with Carpenter syndrome have skull bones that fuse too early and webbed, unusually short, or extra fingers and toes.
Mutated genes cause Carpenter syndrome and they are passed from parent to child during fetal development. These genes cause the coronal (from ear to ear) and sagittal (top of head, front to back) sutures to fuse together prematurely (craniosynostosis).
Children with Carpenter syndrome may have one or more of these symptoms:
- Misshapen head: short from front to back, long and narrow from top to bottom
- Fused or webbed, extra or unusually short fingers and toes
- Facial deformities including abnormally formed eye sockets, flat nasal bridge, small upper or lower jaw
- Misshapen, low-set ears
- Crowded, crooked teeth
- Obesity that begins early in childhood
- Hearing loss
- Bone deformities in the hips, spine or knees
- Problems in some organs, including the heart, lungs, liver or kidneys
Your pediatrician can usually detect Carpenter syndrome or similar syndromes very early by examining and measuring your baby’s head. Because skull deformities appear in several similar syndromes, your pediatrician will use other testing methods to make an accurate diagnosis.
At Children’s National Hospital, our pediatric team uses the following tools to help diagnose Carpenter syndrome:
- X-rays to check for fused (missing) sutures on the top or sides of the head or ridges along these sutures
- Diagnostic imaging, especially CT scans, also to check for fused sutures or ridges along sutures
- Genetic tests to rule out other syndromes for an accurate diagnosis and treatment
Treatment goals focus on relieving pressure inside the head, ensuring enough room for the brain to grow and correcting deformities of the skull, face, fingers or toes. At Children’s National, our treatment options include:
- Surgery on the skull before age 1, while the skull bones are relatively soft
- Minimally invasive surgery for infants younger than 3 months to open skull sutures for normal skull and brain growth
- Traditional surgery for infants 6 months or older to correct the skull’s shape
- Surgery to correct facial and jaw deformities
- Surgery to correct problems with the fingers or toes
- Orthodontic surgery to correct dental problems
- Speech therapy to help with speech and language development
Director, Rare Disease Institute Laboratory
The Cleft and Craniofacial Program at Children’s National brings together experts from 10 pediatric disciplines to provide complete care for children with craniofacial disorders. Our multidisciplinary pediatric team helps more than 400 children every year.
Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.
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