Crouzon Syndrome

Crouzon syndrome also referred to as craniofacial dysostosis is a genetic disorder that leads to the abnormal fusion of the bones of the skull and face. This hinders the growth of the bones in the face thus leading to distortion of the shape of the head and an unusual facial appearance which includes a high prominent forehead, a beak-shaped nose, a small underdeveloped jaw and shallow orbits or eye cavities with bulging eyes.

The appearance of the deformity is evident at birth or during infancy. As the brain of a child grows, so does the skull housing it. This growth occurs at the joints of the plates of the skull or sutures. People affected with crouzon syndrome have certain sutures that are fused leading to compensatory growth of other joints. This results in abnormal facial shape and structure. Depending on the rate in which the skull is fused, determines the severity of the case.

Octave Crouzon, a French neurologist was the first to diagnose this disorder in 1912. Today approximately 1 in every 25,000 live births is affected by the crouzon syndrome.

Characteristic Features Associated With Crouzon Syndrome

• High prominent forehead
• A beak-shaped nose
• Increased pressure inside the skull.
• Existence of excess cerebrospinal fluid in the brain cavity, also referred to as hydrocephalus.
• Abnormalities in the eyes like wide spacing, squint or protrusion of the eyes. Damage may also be caused to the optic nerves.
• A small upper lip and misaligned teeth.
• Conductive hearing loss.
• Obstruction of the nasal airway resulting in mouth breathing.
• Skin pigmentation.
• Learning disability in certain cases.

Crouzon Syndrome: Causes
The condition is caused by the inheritance of mutation from an affected parent in an autosomal inheritance pattern. A mutation in the FGFR2 gene causes the skull bones to fuse prematurely. As the gene provides the necessary instructions for the formation of a protein, fibroblast growth factor receptor 2, it is responsible for bone growth particularly embryo development. The chances of inheriting the disease is 1 in 2.

Although it is usually associated with genetic inheritance as an autosomal dominant pattern, around 25% of the cases may be new mutations without any prior familial history. The person's race and sex does not seem to be the predisposing factor for the occurrence of the disease.

Crouzon Syndrome: Diagnosis
A physical examination of the face and the head is usually sufficient to ascertain the disorder. However x-rays, CT scans and MRI may be helpful in understanding the severity of the case. Other ophthalmologic and psychological tests are usually done along with audio and speech evaluations.

Crouzon Syndrome: Treatment
Crouzon syndrome is incurable. Surgery can be used to unlock the bones of the skull to reconstruct the face and correct the protrusion of the eyes. This if done early in life can relieve the patients of the pressure on the skull which may lead to mental retardation and blindness. To treat any dental, ear, eyes and nose problem, a specialist's help can be taken. Hydrocephalus may also be needed to be drained by using a shunt.

The treatment of crouzon syndrome is the collective effort of a team of specialists who cater to the multiple problems. This includes cosmetic surgeons, dentists, orthodontists, therapists and geneticists.

With early treatment and surgery people suffering from the crouzon syndrome can lead better lives. It is also important to address the psychological and emotional concerns of the individuals and their families dealing with these craniofacial disorders.