Aperts syndrome is a developmental disorder of genetic origin. It is caused by a mutation of chromosome ten and is common in older dads. The disorder is due to many different reasons and is treated accordingly depending on the various symptoms. This syndrome is characterized by iconic signs and symptoms. Aperts also affects many people in many ways such as physically and intellectually. Aperts syndrome is preventable but only by abstinence.
Pathophysiology, Incidence, and Diagnosis
Syndactylic oxycephaly, Acrocephalo-syndactyly type 1, ACS 1, and Apert-Cruozon disease are all different names pertaining to Aperts syndrome. Aperts syndrome is a result of a mutation of the gene FGFR2 or Fibroblast Growth Factor Receptor…show more content… Ninety percent of all individuals with the syndrome have syndactyly, proptosis, depressed nasal bridge, malar flattening, frontal bossing, and a hearing impairment. Fifty percent of all cases manifest irregular cranial sutures or fontanelles, intellectual disabilities, asymmetrical face, strabismus, ocular hypertelorism, hypoplasia/ aplasia of the thumb and/or of the corpus callosum, hypertension, and mandibular prognathia (Genetic and Rare Disease Information Center, 2017). One in eighty-eight thousand babies are affected by Aperts syndrome (Genetics Home Reference,…show more content… Examination of FGFR2 is crucial for determining a diagnosis. Any type of mutations to the seventh exon, the section of a gene that amino acids are coded from, total up ninety-eight percent of all those affected by Aperts. The remaining two percent of the affected by the syndrome are a result from a genetic change of the ninth exon. These exons must be examined to determine whether one is living with the syndrome. The other way Aperts can be diagnosed is through clinical observations. Findings such as syndactyly, polydactyly, and a cone-shaped head also called Turribrachycephalic, which can be affirmed by a X-ray or CT scan. Other iconic facial characteristics such as superficial eye sockets, exophthalmos, ocular hypertelorism, underdeveloped jaw and/or center of the face, and a beak nose. With these characteristics solely Aperts syndrome can be diagnosed without the need of genetic testing, however can be confirmed through genetic examination (Genetic and Rare Disease Information Center,
