2021年11月22日 · 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).

What is Apert Syndrome? 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 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.

2024年12月2日 · 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...

2023年6月1日 · Apert syndrome is another genetically inherited syndrome characterized by craniosynostosis (premature fusion of coronal sutures) resulting in skull and facial deformities and syndactyly. The syndrome was first described in 1906 by French physician Eugene Apert when he described nine people with similar facial and extremity characteristics.[1]

Apert综合征又称为尖头并指综合征(acrocephalosyndactyly)，为散发的常染色体显性遗传性疾病，是以尖头、短头、面中份发育不良及并指(趾)为特征的一组症候群。

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.

2019年5月30日 · Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures.

2024年7月17日 · Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations. The estimated incidence is 1 case per 65-80,000 pregnancies. Apert syndrome was originally described as a triad of: However, other features may include:

Apert syndrome is a type of complex craniosynostosis named after the doctor who first described it in the early 20th century. As well as the skull and face, the hands and feet are also affected. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Apert syndrome.The skull is made up of several ...