Condition

Pediatric Carpenter Syndrome

What You Need to Know

Carpenter syndrome is an extremely rare congenital disorder that causes abnormal growth of a baby’s skull, fingers and toes.

Key Symptoms

The most common symptoms of Carpenter syndrome are:

Misshapen head
Fused or webbed, extra or unusually short fingers and toes
Facial deformities

Diagnosis

Doctors typically diagnose Carpenter syndrome by:

Measuring your child's head
X-rays
CT scans
Genetic tests

Treatment

Treatment may include:

Surgery
Speech therapy

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Frequently Asked Questions

What is Carpenter Syndrome?

What causes Carpenter syndrome in children?

What are the symptoms of Carpenter syndrome in children?

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

How is Carpenter syndrome diagnosed in children?

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

How is Carpenter Syndrome treated in children?

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

Departments that Treat Carpenter Syndrome

Rare Disease Institute - Genetics and Metabolism

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.