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Apert Syndrome: What Is It, Symptoms, Diagnosis & Treatment
Nov 22, 2021 · 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 - 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 - 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 - 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: Symptoms, Causes, Diagnosis, Treatment, Prognosis - WebMD
Dec 2, 2024 · Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. Babies with Apert syndrome are born with a distorted shape of the head and face. Many children with...
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: Causes, Treatments, Symptoms and More - Healthline
Oct 18, 2017 · Apert syndrome is a rare, genetic condition in which the joints in a newborn baby’s skull close too early. This is called craniosynostosis. Typically, the fibrous joints in a newborn’s...
Apert syndrome | Radiology Reference Article - Radiopaedia.org
Jul 17, 2024 · Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
Apert Syndrome: What Is It, Causes, Treatment - Osmosis
Jan 6, 2025 · 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.