Sunday, February 18, 2018

Apert syndrome causing syndactyly or fusing of the fingers in hand. Image credit: Gzzz, (2016, January 14.)

Apert Syndrome

     The characteristics of a person who is suffering from Apert syndrome includes a cone shaped skull, a face that is deep set in the middle, eyes bulging outwards, a beaked nose, and underdeveloped upper jaw. The symptoms include hearing loss, acne, heavy sweating, fusion of spinal bones in the neck, oily skin, missing hair, growth/ development delays, ear infection, cleft palate, and mild to moderate intellectual disabilities.
      Scientists have discovered that this disability is caused by a mutation of the FGFR2 gene. Research has proven that this mutation can occur in children who don't have a family history of this disorder and can also be inherited through family history. The FHFR2 gene produces a protein called fibroblast growth factor receptor 2. This protein holds many responsibilities in reference to signaling bone cell development. When Apert Syndrome occurs, FGFR2 signals longer than it normally does which results in fusion of the skull, facial, feet, and hand bones.
     Apert syndrome is very rare and the exact number of cases is unknown. However researchers know that this disorder can appear with no family history. They also know that if one parent has this disorder the child will have a fifty percent chance to have the disease. The syndrome is equally prevalent between both males and females therefore it does not seem to be sex linked.

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