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.

What causes Aperts syndrome?

Apert syndrome is caused by a change (mutation) in a gene that affects how bones form. The gene is called FGFR2 (fibroblast growth factor receptor 2). Most often the condition is caused by a new genetic change. (This means it was not inherited from the mother or father.)

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).

Is Apert syndrome treatable?

Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.

Who gets Apert syndrome?

Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. Although parents of all ages can have a child with Apert syndrome, the risk is increased in older fathers.

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 life expectancy for 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.

Can you detect Apert syndrome before birth?

Individuals may also have testing for mutations in the FGFR2 gene, which can provide a genetic diagnosis of Apert syndrome. In some instances, features of Apert syndrome may be detected before birth. This would be done through prenatal 2D or 3D ultrasound or magnetic resonance imaging (MRI).

Who can get Apert syndrome?

What do you need to know about 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. Individuals with Apert syndrome typically have the following conditions:

Where to see a hand surgeon for Apert syndrome?

Referral to a specialized hand surgeon with expertise in treating and repairing hand deformities is an important element of care for children with Apert syndrome. The Hand and Arm Disorders Program at CHOP is the region’s largest multidisciplinary center treating children with congenital deformities of the hand.

What causes the cone shaped head in Apert syndrome?

Apert syndrome is primarily characterized by a fusion of the skull bones that occurs too early during development (craniosynostosis) and webbing of the fingers and toes (syndactyly). The early fusion of the skull causes the head to be cone-shaped (acrocephaly).

How are the cranial bones affected by Apert syndrome?

Apert syndrome. The cranial bones are affected as well, similar to Crouzon syndrome and Pfeiffer syndrome. Craniosynostosis occurs when the fetal skull and facial bones fuse too soon in utero, disrupting normal bone growth. Fusion of different sutures leads to different patterns of growth on the skull.