Crouzon syndrome is a rare genetic deformity that involves premature closure of the coronal suture of the skull, causing physical malformations such as drooping eyelids, large protruding eyes, and an underdeveloped upper jaw. It is similar to Apert syndrome but does not affect the hands and feet. The disease is caused by a gene deviation and can be diagnosed through physical exams and diagnostic tools such as CT, MRI, and X-rays. Treatment involves multiple surgeries in stages, and it is recommended that the synostotic sutures of the skull are released in the first year of life.
Initially described by the French neurologist Octave Crouzon in 1912, Crouzon syndrome is a rare genetic deformity involving premature closure of the coronal suture of the skull. Features of this condition include drooping eyelids; large, protruding eyes; and an underdeveloped upper jaw. In the United States, Crouzon syndrome occurs once in every 25,000 births.
Also called craniofacial dystosis, Crouzon syndrome is similar to Apert syndrome, affecting the hands and feet as well as the skull and face. Although many of the physical malformations associated with Apert do not occur in a Crouzon patient, both conditions are believed to have similar genetic origins. In Crouzon syndrome, the skull deformity has the same appearance as in Apert syndrome; however, with Crouzon, there is no fusion of the fingers and toes.
Patients with Crouzon syndrome generally share many of the same physical characteristics, although the severity varies between individuals. The forehead becomes higher instead of growing forward, due to the closure of the skull bones. Also, because the bones between the eyes and upper teeth are smaller than normal, people with Crouzon syndrome appear to have large, bulging eyes. A curved parrot-like nose is also a dominant trait in this condition.
Patients with this disease usually have normal intelligence, although some mental retardation is possible. Difficulty breathing and abnormal speech patterns are common due to the smaller nose present. A cleft palate is sometimes linked to Crouzon syndrome and can cause hearing problems due to frequent ear infections.
Like most other syndromic craniosynostoses, Crouzon syndrome is thought to be caused by a gene deviation. This is an extremely rare and scattered occurrence. Crouzon patients have a 50% chance of passing the disease on to their children. If both parents are unaffected by the disease, however, the chance of it developing in the other children is greatly reduced.
A physical exam is most commonly used to diagnose Crouzon syndrome, as it is present at birth. Computed tomography (CT), magnetic resonance imaging (MRI), and X-rays are also useful diagnostic tools. Additional ophthalmological, audiological and psychological tests may also be used.
Treatment of Crouzon syndrome is broad and complex and is best provided by an experienced craniofacial team in one of several leading healthcare centers around the world. The typical treatment plan for this disease involves multiple surgeries in stages. It is recommended that in the first year of life, the synostotic sutures of the skull are released to allow for proper brain growth. As the child matures, remodeling of the skull is often done for optimal results.
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