What syndromes are related to craniosynostosis?

What syndromes are related to craniosynostosis?

The most common craniosynostosis syndromes are Crouzon, Pfeiffer and Apert.

• Pfeiffer syndrome is the most common of the three, affecting about one of every 25,000 births, and its severity varies.
• Crouzon syndrome occurs in about one of every 100,000 births, and also varies considerably in severity.

What genetic syndrome causes craniosynostosis?

FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases.

What is Crouzon syndrome caused by?

Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development.

Does craniosynostosis cause developmental delays or Behaviour problems?

In 2015, Dr. Matthew Speltz’s team published results indicating that school-age children with the most common form of craniosynostosis are more likely to suffer developmental delays and learning problems than children who don’t have the disorder.

What is Carpenter’s syndrome?

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).

What is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a genetic disorder characterized by varied and broad skull, face, and limb anomalies. TWIST gene mutations are responsible for causing the early fusion of the skull.

Is Metopic craniosynostosis genetic?

Craniosynostosis is a relatively common congenital condition and has both genetic and environmental causes.

Is craniosynostosis hereditary or environmental?

Craniosynostosis is thought to be caused by a combination of genetic and environmental factors. Some studies suggest that environmental factors such as smoking or taking certain medications during pregnancy may cause the condition to develop in the fetus.

What is Pfeiffer syndrome?

Pfeiffer syndrome, also known as acrocephalosyndactyly Type V, is a genetic disorder characterized by the anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones. Craniofacial differences are similar to those seen in Apert syndrome.

Can craniosynostosis cause brain damage?

Sometimes, if the condition is not treated, the build-up of pressure in the baby’s skull can lead to problems, such as blindness, seizures, or brain damage.

What is Alstrom Syndrome?

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy ), obesity, type 2 diabetes (the most common form of diabetes), and short stature.

What is Acrocallosal syndrome?

Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features.

What is the prognosis of craniosynostosis?

The best possible outcome of craniosynostosis depends on early detection and treatment, since some forms of craniosynostosis can affect your child’s brain and development. A child with craniosynostosis requires frequent medical evaluations to ensure that the skull, facial bones and brain are developing normally.