Apert Syndrome: What Is It, Symptoms, Diagnosis & Treatment
Apert syndrome is a rare condition caused by a genetic mutation that occurs early during pregnancy. The mutation could be inherited or newly formed (de novo). There is a 50% chance that you could have a child with Apert syndrome if one parent has the genetic condition (autosomal dominant).
Apert Syndrome - Children's Hospital of Philadelphia
Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.
Apert Syndrome - Symptoms, Causes, Treatment | NORD
Jul 30, 2019 · Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. This can cause the top of the head to appear pointed and can affect facial bones.
Apert syndrome - Wikipedia
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible.
Apert Syndrome - StatPearls - NCBI Bookshelf - National Center …
Jun 1, 2023 · Apert syndrome is an autosomal dominant inherited craniosynostosis syndrome. Males and females are equally affected. The incidence of the disease significantly increases with paternal age and is felt to provide a selective advantage within the male spermatogonial cells.
Apert syndrome | About the Disease | GARD - Genetic and Rare …
Apert syndrome is characterized by fusion of the skull bones too early during development (craniosynostosis) and webbing of fingers and toes (syndactyly). Other signs and symptoms may include distinctive facial features, some of which may lead to dental and vision problems.
Apert syndrome - MedlinePlus
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Apert Syndrome - Boston Children's Hospital
What is Apert syndrome? Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet bones. It is characterized by deformities of the skull, face, teeth, and limbs. Apert syndrome …
Apert Syndrome: What Is It, Causes, Treatment, and More
Jul 31, 2023 · Apert syndrome is a rare genetic disorder characterized by premature fusion of the skull bones, also known as craniosynostosis. This prevents the skull from growing and affects the shape of the head and face, causing increased pressure around the brain.
Apert syndrome - Great Ormond Street Hospital
Apert syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected gene as the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This affects how certain cells in the body – including bone cells – grow, divide and die.
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