Your head can be: Pointed at the top, a cone-shaped skull, known as turribraquicephalia. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of … This condition is … Apert syndrome can also cause abnormalities in the fingers and toes. While in utero, a baby's skull can fuse prematurely, causing the face and head to change shape. It is a genetic disorder inherited by birth and the children with this syndrome will have markedly long head and distorted face. In addition to the abnormal skull such children would also have various other problems inherited by birth. The early fusion of the skull causes the head to be cone-shaped (acrocephaly). 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: More commonly though, it is a completely random occurrence. Apert syndrome is a rare genetic condition that can cause the skull to grow abnormally. Problems caused by Apert syndrome. Apert syndrome is a rare genetic disorder that involves premature fusing of the skull bones during the development of the fetus. Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Apert syndrome is primarily characterized by a fusion of the skull bones that occurs too early during development (craniosynostosis) and webbing of the fingers and toes (syndactyly). Babies born with Apert syndrome may also have fingers or toes fused together. The cause of Apert syndrome is the mutation of the single FGFR2 gene. As discussed above, the condition of Apert syndrome causes the poor development of the physical character that leads to several problems. However, the syndrome also causes following problems in children suffering from the condition. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible.Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. The precise cause of Apert syndrome is unknown. Alport syndrome is characterized by kidney disease, hearing loss, and eye abnormalities.Symptoms typically begin in childhood, and the first sign of the condition is usually the presence of blood in the urine ().Other symptoms of kidney disease can include having protein in the urine (proteinuria).Over time, an affected person may experience swelling (), bone weakening, and … Individuals with Apert syndrome typically have the following conditions: Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. Apert syndrome is a disorder that is marked by abnormal growth of skull bones. Apert syndrome causes facial and cranial anomalies, which can cause vision and dental problems. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. 30 % of children suffering from the apert syndrome also develop cleft palate. This can also lead to a sunken appearance in the middle of the face (midface hypoplasia), wide-set eyes (hypertelorism), and a … People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome derives its name from that of the French physician, Eugene Apert, who produced detailed case studies of this condition. Babies with Apert syndrome have an atypical head and face. There are no known causes or risk factors for Apert Syndrome. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones. Apert syndrome is a rare genetic condition that is apparent at birth. Apert syndrome causes. It is this gene that is responsible for producing and guiding a protein namely the fibroblast growth factor receptor 2 to give signals to the immature cells to take the place of the bone cells. Causes of Apert Syndrome. What Is Apert Syndrome? 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