CROUZON SYNDROME

This syndrome was named after Octave Crouzon, a French physician who first described the disorder. He observed that the affected patients were a mother and a daughter, thus indicating that the disease originates from the genes.

This disorder was first called Craniofacial dysostosis (“Craniofacial” refers to the skull and face and "dysostosis" refers to the malformation of the bone)

This syndrome is caused by a mutation in the fibroblast growth factor receptor II, located in chromosome 10.

Basically, what happens in the disease is that an infant’s skull and facial bones, during development, fuse together early or are unable to expand. As a result, normal bone growth cannot occur

Crouzon syndrome is autosomal dominant meaning that children of a patient have a 50% chance of being affected.

 The symptoms are usually very pronounced especially in the face. Some of the symptoms are:

·       -  Low set ears. The ears on a foetus are much lower than those on an adult. During normal development, the ears “travel” upward on the head. However in Crouzon’s syndrome patients, this pattern of development is disrupted.

·        - Ear canal malformations are extremely common, resulting in some hearing loss

·        - Exophthalmos: bulging eyes due to shallow sockets

·        - Hypertelorism: Abnormally large distance between the eyes
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     - As a result of their face not developing well, children with Crouzon syndrome often have Obstructive Sleep Apnea, OSA (intervals of breathlessness during sleep)
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·        - Psittichorhina: beak like nose

·       -  Noticeable shorter humerus (bone of the hand) and femur (bone of the leg) bones relative to the rest of their bodies.

Diagnosis of Crouzon syndrome can be carried out at birth by examining the signs and symptoms shown by the baby. Radiographs, magnetic resonance Imaging (MRI) scans, genetic testing, Xrays and CT scans can be used to diagnose the disease.

Surgery is mostly the option of treatment. This aims at correcting the skull and mid-face abnormalities,and treating OSA 

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