Apert syndrome
acrocephalosyndaktylia latin

The hands in patients with Apert syndrome always show four common features:

Ventriculomegaly is a usual finding in children with the Apert syndrome.

Apert syndrome can be passed down through families (inherited).

This may explain why both symptoms are always found in Apert Syndrome.

Genetic testing can confirm the diagnosis of Apert syndrome.

Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal.

This is the most uncommon but also most severe form of hand deformity in Apert syndrome.

The offspring of a parent with Apert syndrome has a 50% chance of inheriting the condition.

It is still not very clear why people with Apert Syndrome have both craniosynostosis and syndactyly.

Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2.

However, the typical hand deformities in patients with Apert Syndrome distinguish it from the other syndromes.

Call your health care provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.

In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically).

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.

Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis).

Several other syndromes can lead to a similar appearance of the face and head, but do not include the severe hand and foot problems of Apert syndrome.

Patients with Apert syndrome have a high occurrence of middle ear disease, otitis media and conductive hearing loss (Perterson-Fazone et al., 2001).

Chas didn't want anyone to find out about his relationship with Cecilia, and the fact that he was the father of Cecilia's child, which has Apert syndrome.

Congenital causes include: Aarskog syndrome and Apert syndrome among many other well acquired causes includes trauma.

Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly.

The family were referred to the Oxford Craniofacial Unit where they learned that Finley had a rare genetic condition called Apert Syndrome.

The condition came to be known as "Apert syndrome", a syndrome consisting of a triad of disorders, namely craniosynostosis, syndactyly and maxillary underdevelopment.

And it was actually the team's senior geneticist, Professor Andrew Wilkie, who identified for the first time the exact location of the tiny genetic "spelling mistake" which causes Apert Syndrome.

The rising age of fathers has been associated with reproductive problems including spontaneous abortion and with genetic diseases like achondroplasia, a type of dwarfism, and Apert syndrome, which involves severe bone malformations.

Lucy considers herself a budding novelist; precocious Edward is horribly deformed by a rare disease called Apert syndrome, but he's at least as well read and brainy as Salinger's entire Glass family.