Can Apert syndrome be passed down?
Apert syndrome can be passed down through families (inherited) as an autosomal dominant trait. This means that only one parent needs to pass on the faulty gene for a child to have the condition.
Is Apert syndrome more common in a certain race?
Asians had the highest prevalence (22.3 per million live births; CI 7.1,61.3) and Hispanics the lowest (7.6 per million, CI 3.3-16.4).
How is the family of a person with Apert syndrome affected?
Apert syndrome can be inherited, or it may occur without a known family history. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.
Is Apert syndrome more common in males or females?
Apert syndrome is a rare disease and is estimated to occur in 1 in 65,000 to 200,000 births depending on the study cited. [3] Males and females are equally affected.
Why do people get Apert syndrome?
Apert syndrome is caused by a change (mutation) in a gene that affects how bones form. The gene is called FGFR2 (fibroblast growth factor receptor 2). Most often the condition is caused by a new genetic change. (This means it was not inherited from the mother or father.)
What gender does Apert syndrome affect?
Apert syndrome is a rare disease and is estimated to occur in 1 in 65,000 to 200,000 births depending on the study cited. [3] 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.
What is the life expectancy of someone with Apert syndrome?
Those with Apert syndrome who survive past childhood and don’t have heart problems likely have a normal or near-normal life expectancy. Life expectancy is likely improving because of advances in surgical techniques and follow-up care.
What is Jackson Weiss syndrome?
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
What are other names for 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.
Who is most likely to get Apert?
Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. Although parents of all ages can have a child with Apert syndrome, the risk is increased in older fathers.
Is Apert syndrome autosomal dominant or recessive?
Apert syndrome is inherited in an autosomal dominant manner. However, most individuals with Apert syndrome have the disorder as the result of a de novo FGFR2 pathogenic variant. Advanced paternal age has been shown to be associated with de novo pathogenic variants for Apert syndrome. A … Apert Syndrome Review
Ispert syndrome autosomal dominant or recessive?
Mode of Inheritance Apert syndrome is inherited in an autosomal dominantmanner. Risk to Family Members Parents of a proband Some individuals diagnosed with Apert syndrome have an affected parent. Most individuals diagnosed with Apert syndrome have the disorder as the result of a de novo FGFR2pathogenic variant.
What causes the Apert syndrome paternal age effect?
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. PLoS Genet. 2009;5:e1000558. [PMC free article: PMC2700275] [PubMed: 19593369] Chapter Notes Acknowledgments The authors would like to acknowledge Dr Carrie Heike for her critical review of this GeneReview. Revision History
Are somatic variants in FGFR2 heritable in Apert syndrome?
Sporadic tumors occurring as single tumors in the absence of any other clinical findings of Apert syndrome frequently harbor somatic variants in FGFR2that are not present in the germline. In these circumstances predisposition to these tumors is not heritable.