DefinitionCrouzon syndrome is a genetic disorder. It results in abnormal joining of the bones in the skull and face.Infants have sutures between the bones in the face and skull. As an infant’s brain grows, these sutures allow the skull to expand. These sutures fuse together by the time we are adults and our skulls and brains are done growing.In Crouzon syndrome, the bones in the skull and face fuse too early. The skull is then forced to grow in the direction of the remaining open sutures. This causes an abnormally shaped head, face, and teeth.
|Normal Open Sutures in Infant Skull (Pink)|
|Copyright © Nucleus Medical Media, Inc.|
CausesCrouzon syndrome is caused by a defect in a specific gene known as FGFR2 (fibroblast growth factor receptor 2). It is not clear what causes this gene to mutate. Some may be inherited from parents' genes.
Risk FactorsFactors that may increase your child's risk of Crouzon syndrome include:
- Parents with the disorder
- Parents who do not have the disorder, but who carry the gene that causes the disorder.
- Fathers at an older age at the time of conception
SymptomsSymptoms of Crouzon syndrome include:
- Flattened top and back of head
- Flattened forehead and temples
- Mid-face that is small and located further back in the face than normal
- Beak-like nose
- Compression of nasal passages, often causing reduced airflow through the nose
- Large, protruding lower jaw
- Misalignment of teeth
- High-arched, narrow palate, or cleft palate
- Problems with development of the inner ear and hearing loss
- Meniere’s disease—lightheadedness, vertigo, or ringing in the ears
- Problems with the eyes, including vision problems, crossed eyes, or involuntary eye movement
- Curvature of the spine
- Acanthosis nigricans—small, dark, velvety patches of skin
- Hydrocephalus—build up of fluid in the skull
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