What does acrocephalosyndactyly mean?

What does acrocephalosyndactyly mean?

Acrocephalosyndactyly: An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too-early of some of the sutures of the skull (craniosynostosis).

What does Apert mean?

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

What is Aperts syndrome?

Apert syndrome is a rare genetic condition that is apparent at birth. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely.

What is Apert syndrome caused by?

Mutations in a gene known as FGFR2 cause Apert syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). Among its multiple functions, the FGFR2 protein plays a key role in development before birth by signaling immature cells to become bone cells.

What is the life expectancy of someone with Apert syndrome?

Life expectancy for an individual with Apert syndrome is normal; however, some of the health problems associated with the syndrome can lead to complicated disease and a premature death.

What body systems are affected by Apert syndrome?

Apert syndrome is a condition where the bones of the skull fuse together too early, which affects the shape of the head and face. People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones.

What are Apert syndrome symptoms?

Symptoms of Apert syndrome

• tall skull and high prominent forehead.
• underdeveloped upper jaw.
• prominent eyes that appear to be bulging out and may be spaced widely apart.
• small nose.
• fused fingers.
• fused toes.
• slower mental development due to the abnormal growth of the skull.
• cleft palate.

How do you get diagnosed with Apert syndrome?

Apert syndrome is usually diagnosed at birth by the physical signs, such as a tall skull and high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers and/or toes. The fusion of the fingers and toes distinguishes Apert syndrome from other craniofacial disorders.

What is the quality of life for people with Apert syndrome?

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.

What is another name for 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.

Does Apert syndrome affect intelligence?

Children with Apert syndrome can have various degrees of learning problems and developmental delays. About 70% have a reduced IQ but some have normal intelligence. Patients with Apert syndrome have varying degrees of webbed or fused fingers and toes (Syndactyly).

Can Apert syndrome be passed onto offspring?

Apert syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease. The children of a parent with Apert syndrome have a 50% chance of passing this mutation on to their children.