Crouzon Syndrome
Crouzon Syndrome
Crouzon Syndrome (pronounced kroo-ZON) is a rare genetic disorder characterized by the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Etymology
The syndrome is named after French neurologist Octave Crouzon, who first described the disorder in 1912.
Symptoms
Crouzon Syndrome is characterized by a number of distinctive symptoms. These include:
- Craniosynostosis: This is the premature fusion of the skull bones, which is the primary symptom of Crouzon Syndrome.
- Proptosis: This refers to the bulging or protrusion of the eyes, a common symptom due to the abnormal growth of the skull.
- Strabismus: This is a condition in which the eyes do not properly align with each other when looking at an object.
- Maxillary Hypoplasia: This is the underdevelopment of the upper jaw, leading to a concave facial profile.
- Airway Obstruction: This can occur due to abnormalities in facial bone structure.
Causes
Crouzon Syndrome is caused by mutations in the FGFR2 gene. It is inherited in an Autosomal Dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Treatment
Treatment for Crouzon Syndrome often involves surgery to correct the abnormalities of the skull, face, and jaw. Other treatments may include Orthodontics to align the teeth and jaws, and Speech Therapy to improve speech difficulties that may be present.
Related Terms
- Craniofacial: Pertaining to the skull and face.
- Genetic Disorder: A disease caused by abnormalities in an individual's genetic material.
- Mutation: A change in the DNA sequence that makes up a gene.
External links
- Medical encyclopedia article on Crouzon Syndrome
- Wikipedia's article - Crouzon Syndrome
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