Syndactyly always involves fusion of the soft tissues of the first, middle and ring fingers. Apert Syndrome is a rare but very abnormal condition that can alter the physical and brain structure of an affected person. This gene defect causes some of the bony sutures of the skull to … Apert syndrome is caused by one of two changes to the FGFR2 gene. It is caused by a defect in the receptor 2 gene of fibroblast growth factor on chromosome 10. Children born with apert’s syndrome have typical physical characteristics of the head, the face, the fingers and the toes. Symptoms of the following disorders may be similar to those of Apert syndrome. The precise cause of Apert syndrome is unknown. With craniosynostosis, coronal sutures most commonly are involved, resulting in acrocephaly, brachycephaly, turribrachycephaly, flat occiput, and high prominent forehead. Several children are also born with other birth defects due to Apert syndrome. Apert syndrome is a rare inherited condition marked by abnormal shape of the face and skull due to premature fusion of the bones, and webbing of hands and feet. This affects the shape of the head and face. Apert syndrome is a rare congenital disorder. Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. With the development, the brain continues the growth inside the deformed … This gene defect causes some of the bony sutures of the skull to close too early. This means that only one parent needs to pass on the faulty gene for a child to have the condition. In addition to the abnormal skull such children would also have various other problems inherited by birth. Symptoms Apert's syndrome is detected early in the newborn period due to the craniosynostosis and associated findings of webbed digits (syndactyly) in the hands and feet. Apert syndrome is actually a genetic defect which leads to an unusual growth of the skull. Doctors believe it's probably the result of genetic mutation that occurs early on in pregnancy in a gene called "fibroblast growth factor receptor 2," or FGFR2.. Because this gene plays an important role in bone growth, disruption of it may cause the physical traits of Apert syndrome, such as: Apert syndrome is inherited in an autosomal dominant manner. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. This gene produces a protein called fibroblast growth factor receptor 2. Apert Syndrome Symptoms Craniosynostosis. Signs of Apert syndrome include craniosynostosis, midface deficiency, hypertelorbitism and syndactyly. Apert syndrome is caused by one of two changes to the FGFR2 gene. If you find any infant in your family exhibiting symptoms of this … Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.Nearly all cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. The thumb may be fused with the rest or may be free. Symptoms include: Early closure of sutures between bones of the skull, noted by ridging along sutures (craniosynostosis) Frequent ear infections In some cases, mild to moderate deviations are seen and in others the face and head region are severely impaired with development. It’s categorized as a branchial arch syndrome, affecting the very first branchial (or pharyngeal) arch, the precursor of this maxilla and mandible. A … It is quite rare and estimates of its incidence vary somewhat, with recent studies placing it between 1 in 65,000 and 1 in 88,000 live births. Apert syndrome can be passed down through families (inherited). Apert Syndrome- Causes, Symptoms And Treatment Apert syndrome is a kind of acrocephalosyndactyly , a congenital illness characterized by malformations of the skull, face, feet and hands. It is seen equally in men and women. Apert syndrome is a disorder that is marked by abnormal growth of skull bones. This condition is called craniosynostosis. Luckily, early surgery for this disease has an excellent prognosis. Symptoms Of Apert Syndrome. Mutations in the FGFR2 gene cause Apert syndrome. In the new born babies, the condition of Apert syndrome causes the premature fusion of bones in cranium and skull which is also known as craniosynostosis. This means that only one parent needs to pass on the faulty for... 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