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Apert syndrome is a rare genetic disorder that causes a fetus’ facial and skull bones to fuse together too early in its development.
Apert syndrome causes facial and skull abnormalities, which can lead to visual impairments and dental problems. Apert syndrome can also cause abnormalities in the fingers and toes.
This article will provide an for this condition.
What is Apert syndrome?
Apert syndrome may cause syndactyly, or fusing of the fingers or toes. Image credit: Gzzz, (2016, January 14.)
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.
In many cases, three or more fingers or toes also fuse together, which is called syndactyly.
Apert syndrome is a genetic disorder. It usually appears with no family history of the syndrome, but it can also be inherited from a parent.
Characteristic symptoms of Apert syndrome include:
a cone-shaped skull, known as turribrachycephaly
a face that is deep-set in the middle
eyes that are wide and bulge outwards
a beaked nose
an underdeveloped upper jaw, which can cause the teeth to become crowded
The facial and skull abnormalities can lead to some health and development problems. If not corrected, vision problems often occur as a result of shallow eye sockets. The upper jaw is usually smaller than average, which can lead to dental problems as the child’s teeth grow.
With Apert syndrome, the skull is smaller than usual, which can put pressure on the developing brain. People with Apert syndrome may have an average level of intellect, or a mild to moderate intellectual impairment.
Children born with Apert syndrome often have webbed fingers and toes. Most often, three fingers or toes are fused together, but sometimes a whole set of fingers or toes may be webbed. Less commonly, a child may have additional fingers or toes.
Additional signs and symptoms of Apert syndrome include:
fusion of spinal bones in the neck
missing hair in the eyebrows
growth and development delays
recurrent ear infections
a cleft palate
mild to moderate intellectual disabilities
Apert syndrome is a genetic condition caused by a mutation in a specific gene.
Apert syndrome is a birth abnormality caused by a mutation of the FGFR2 gene. This can occur in babies with no family history of the disorder, or they can inherit it from a parent.
The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. This protein has many important roles in a fetus’ development, including a key role in signaling bone cell development.
When this gene mutation occurs, FGFR2 continues to signal for longer than usual, leading to early fusion of the skull, facial, feet, and hand bones.
Mutations to the FGFR2 gene can also cause several other related disorders, including:
What is Craniosynostosis?
In this article we talk about a craniosynostosis, a rare condition where a baby’s skull plates fuse together too early, causing an abnormal head shape.
Frequency and inheritance
Apert syndrome is an extremely rare condition. The number of people who have it is not known, and estimates vary between sources.
The U.S. National Library of Medicine estimate that it affects 1 in 65,000 to 88,000 newborns, and the National Organization for Rare Disorders (NORD) estimate that the figure is closer to 1 in 165,000 to 200,000 births.
Most cases of Apert syndrome appear with no previous family history of the disorder. However, the NORD also report that when one parent has the disorder, the child will have a 50 percent chance of developing it. This statistic applies to each pregnancy.
This syndrome appears to affect males and females equally.
Apert syndrome can often be diagnosed at birth or at an early age.
To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet.
A doctor may perform a skull radiograph or CT scan of the head to determine the nature of the bone abnormalities. Molecular genetic testing may also be used to help with diagnosis.