What type of genetic disorder is Apert syndrome?

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.

What type of disorder is Apert syndrome?

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder characterized by deformities of the skull, face and limbs. Apert syndrome can occur between 1 out of every 60,000 to 80,000 births.

What chromosome has the genetic mutation for Apert syndrome?

Causes of Apert Syndrome

Apert Syndrome is the result of a genetic change (mutation) in a gene called FGFR2 – “fibroblast growth factor receptor 2” – on chromosome 10. A child only needs to receive the mutated gene from one parent to be affected by the disorder.

What is the genotype of Apert syndrome?

Abstract. Apert syndrome is an autosomal dominant condition characterized by craniosynostosis and severe syndactyly, caused by two recurrent mutations in the fibroblast growth factor receptor 2 gene (FGFR2).

Is Apert syndrome a spontaneous mutation?

In most cases, Apert syndrome arises from a sporadic or spontaneous mutation, meaning that the parents are unaffected and that the child is affected as a result of a new mutation or defect in the fibroblast growth factor receptor 2 (FGFR2) gene, which is on chromosome number 10.

Apert syndrome

Is Apert syndrome autosomal dominant?

Apert syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.

How does Apert syndrome occur?

Apert syndrome occurs when joints (sutures) between bones in your baby's skull close early (craniosynostosis). The early closure of their skull prevents the bones from developing normally, causing changes to the facial bones.

What makes something autosomal dominant?

One of the ways a genetic trait or a genetic condition can be inherited. In autosomal dominant inheritance, a genetic condition occurs when a variant is present in only one allele (copy) of a given gene.

Is Apert syndrome a disability?

There is no disability listing for Apert syndrome among the Social Security Administration's (SSA's) impairment list. This does not however mean that the condition cannot medically qualify a child to receive benefits.

What does the 10th chromosome do?

The association of cancerous tumors with a loss of chromosome 10 suggests that some genes on this chromosome play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in cancer.

What does Apert mean?

Definition of apert

1 archaic : open, manifest, evident. 2 obsolete : bold, straightforward, outspoken.

Can you have an XXY chromosome?

Usually, a female baby has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). The X chromosome is not a "female" chromosome and is present in everyone. The presence of a Y chromosome denotes male sex.

How common is Apert syndrome?

Apert syndrome is rare. It is estimated to happen in 1 in 65,000 to 88,000 newborns. Children with Apert syndrome have: Early closure of both coronal sutures at the top and front of the skull (bicoronal synostosis).

Is syndactyly a genetic disorder?

Syndactyly often runs in families. About 10 to 40 percent of children with syndactyly inherit the condition from a parent. In some cases, the condition is part of genetic syndrome, such as Poland syndrome or Apert syndrome.

Is syndactyly dominant or recessive?

Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described.

Can people with Apert syndrome talk?

Conclusion: Children with Apert syndrome are at a higher risk of speech and language difficulties than the typical population. Speech and Language Therapists play an integral role in the management of school aged children with Apert Syndrome.

What are the autosomal recessive disorders?

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease. You inherit genes from your biological parents in specific ways. One of the ways is called autosomal recessive inheritance.

What's the difference between autosomal dominant and autosomal recessive?

Autosomal dominant traits pass from one parent onto their child. Autosomal recessive traits pass from both parents onto their child. Autosomal refers to the 22 numbered chromosomes as opposed to the sex chromosomes (X and Y).

Which genetic disorders are autosomal dominant?

Huntington's disease and Marfan syndrome are two examples of autosomal dominant disorders. Mutations to BRCA1 and BRCA2 genes — which have been associated with breast cancer — also are transmitted in this pattern.

What is it called when 2 toes are stuck together?

The medical term for two or more fingers or toes that are fused together or “webbed” is syndactyly (sin-dak-tuh-lee).

What is the difference between Apert and Crouzon syndrome?

Crouzon syndrome and Apert syndrome are both craniosynostosis syndromes caused by a mutated FGFR2 gene. Apert syndrome is similar but more severe. With Apert syndrome, your baby has the craniofacial characteristics of Crouzon syndrome. In addition, they may have fused or webbed fingers and toes.

How long do people with Aperts live?

Life expectancy also varies between children 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.

Is XO male or female?

Males only have one X chromosome (X0), while females have two (XX). The zero (sometimes, the letter O) signifies the lack of a second X. Maternal gametes always contain an X chromosome, so the sex of the animals' offspring depends on whether a sex chromosome is present in the male gamete.

What is the gender of YY?

Each person normally has one pair of sex chromosomes in each cell. The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. Identifying genes on each chromosome is an active area of genetic research.