Carpenter Syndrome
What is Carpenter Syndrome?
Carpenter syndrome is an extremely rare 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.
What are Carpenter Syndrome symptoms?
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
What causes Carpenter Syndrome?
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).
How is Carpenter Syndrome diagnosed?
A pediatrician can usually detect Carpenter syndrome or similar syndromes very early by examining and measuring the baby’s head. Because skull deformities appear in several similar syndromes, the pediatrician will use other testing methods to make an accurate diagnosis.
The following tools may be used to 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
Are there Carpenter Syndrome treatment options available?
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.
Some 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 and toes
- Orthodontic surgery to correct dental problems
- Speech therapy to help with speech and language development
