What are the characteristics of Apert syndrome?

What are the characteristics of Apert syndrome?

People with Apert syndrome may have widely spaced eyes (hypertelorism), bulging eyes, or down-slanting palpebral fissures. They may also have underdeveloped midfacial regions (maxillary hypoplasia) and palate abnormalities such as a cleft palate. The right and left sides of the face may not be symmetrical.

What is the cause of Apert syndrome?

Causes. 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.

How is the family of a person with Apert syndrome affected?

No known food, medication, or activity during pregnancy can cause your child to have Apert syndrome. Apert syndrome can be inherited, or it may occur without a known family history. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.

Is Apert syndrome a genetic disorder?

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.

What happens to the body when you have Apert syndrome?

Apert syndrome occurs when joints (sutures) between bones in your baby’s skull close early (craniosynostosis). The early closure of their skull prevents the bones from developing normally, causing changes to the facial bones.

How do you diagnose Apert syndrome?

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.

What chromosome causes Apert syndrome?

Causes of Apert Syndrome Apert Syndrome is the result of a genetic change (mutation) in a gene called FGFR2 – “fibroblast growth factor receptor 2” – on chromosome 10. A child only needs to receive the mutated gene from one parent to be affected by the disorder.

Is Apert syndrome more common in one ethnicity?

The calculated mutation rate was 6.2 x 10(-6) per gene per generation. Asians had the highest prevalence (22.3 per million live births; CI 7.1,61.3) and Hispanics the lowest (7.6 per million, CI 3.3-16.4).

How does Apert syndrome affect the brain?

Brain: Apert syndrome causes pressure on the brain, which can disrupt how your child learns and thinks (cognitive development). They may face mild to moderate intellectual disabilities.

What is it called when 2 toes are stuck together?

The medical term for two or more fingers or toes that are fused together or “webbed” is syndactyly (sin-dak-tuh-lee).

How does Apert syndrome affect speech?

Conclusion: Children with Apert syndrome are at a higher risk of speech and language difficulties than the typical population. Speech and Language Therapists play an integral role in the management of school aged children with Apert Syndrome. Detailed speech and language assessment is important.

Does Apert syndrome cause mental retardation?

Abstract. Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present.

Is Apert syndrome fatal?

Apert syndrome is a genetic condition that may require several surgeries to alleviate symptoms but ultimately leads to your child living a full and normal life.

What is the skin between your fingers called?

The area of skin between the thumb and the index finger is often call the “thenar webspace”. What the “webspace” looks like when a child is performing fine motor tasks is often a good indicator of muscle strength and fine motor control.

What is pigeon toed?

Pigeon toe, also called intoeing, is when your feet point inward instead of forward. Pigeon toes are common in young children. The condition generally resolves on its own without treatment.

What is toe walk?

Walking on the toes or the balls of the feet, also known as toe walking, is fairly common in children who are just beginning to walk. Most children outgrow it. Kids who continue toe walking beyond the toddler years often do so out of habit.