Jaw:- Slower growth of midface bones results in a progressive difference between the upper and lower jaw. Over time the upper jaw appears smaller and the lower jaw appears to jut outward. The palate (roof of the mouth) may be very tall and narrow such that the teeth of the upper jaw are crowded and positioned behind the lower jaw during chewing. Rarely there is a cleft palate (gap in the roof of the mouth). The nose is small and beak-like. If there is difficulty in breathing the infant may require placement of a surgical tracheostomy (breathing tube in the windpipe).
Hearing:- Conductive (bone) hearing impairment is noted in about 55% of people with Crouzon syndrome, with some infants born with a complete absence of ear canals. Children with Crouzon syndrome may need to wear hearing aids for hearing loss.
Joints:- People with Crouzon syndrome do not have the abnormalities of the hands and feet noted in other craniosynostosis syndromes, though sometimes they will have restricted elbow movement. Cervical spine (neck) abnormalities have been noted in 30% of people with Crouzon syndrome.
Skin:- Some people with Crouzon syndrome develop a skin abnormality called acanthosis nigricans. This involves the development of patches of darker pigmented (colored), thickened (velvety feeling) skin on the neck and eyelids and around the mouth. These children have the form of Crouzon syndrome caused by mutations in FGFR3. The abnormal facial features of a child with Crouzon syndrome typically become more apparent with growth.
Crouzon Syndrome Diagnosis
To diagnose this condition, your doctor will examine your child’s skull carefully. The shape will help the doctor tell whether any sutures have fused. Computed tomography (CT) imaging can give the doctor more information. A CT scan is an X-ray procedure that takes a computer-enhanced cross-sectional view of the body. Your child’s facial features will help the doctor determine whether they have Crouzon syndrome or another condition. Your child may need X-rays of their spine and hand to confirm the diagnosis. The doctor may test a sample of cells from your child’s skin to check for acanthosis nigricans, too. Your doctor may also do genetic tests that show whether your child has a mutation that causes Crouzon syndrome.