Acrocephalosyndactyly, Type 1

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Diagnosis
6 Treatment and Management
7 Prognosis
8 Resources
9 References

[edit] Name of Condition

Acrocephalosyndactyly, Type I, most commonly referred to as Apert Syndrome, but also known as ACS1 or Syndactylic Oxycephaly.

[edit] Definition

ACS1 is a rare congenital condition that results in the premature closing of the sutures of the skull during developmental stages and is characterized by abnormalities in the shape of head and face, as well as fusion of the fingers and toes (syndactyly) and ends of thumbs and big toes.

[edit] Description, Signs and Symptoms

Characterizations of ACS1 are:

distinctive malformations of the skull
facial feature malformations such as widely spaced eyes, protrusion of the eyes, and abnormally narrow palate (roof of the mouth)
fusion of fingers and toes (syndactyly)
broad thumbs and big toes
mental retardation, in some cases
low-set ears

[edit] Inheritance

Apert syndrome is inherited as an autosomal dominant trait, in the form of a mutation within the fibroblast growth receptor 2 (FGFR2) gene located on chromosome 10. Males and females seem to be equally affected. While most cases have occurred as new mutations, meaning that they occurred randomly and without a known genetic predisposition, a parent with Apert syndrome has a 50% chance of having a child with the condition.

[edit] Diagnosis

Diagnosis can be confirmed by way of prenatal imaging techniques.

[edit] Treatment and Management

Orthodontic and orthognathic surgery can help alleviate some the facial malformations and more aggressive surgical techniques may be used to separate the fused fingers and toes. Surgery would also be required to prohibit closure of the sutures of the skull in order to decrease the risk of damaging brain during development.