What syndromes are associated with craniosynostosis?

What syndromes are associated with craniosynostosis?

Syndromes most frequently associated with craniosynostosis include Apert, Crouzon, Pfeiffer, Carpenter, and Saethre-Chotzen [1]. Syndromic craniosynostoses are often sporadic and are the result of de novo autosomal dominant mutations involving fibroblast growth factor receptors (FGFRs) and TWIST genes.

What causes Trigonocephaly?

When the suture fuses prematurely the frontal bone and forehead cannot grow in response to the growth of the brain. The remaining open sutures must grow to make up for the lack of growth in the forehead, leading to a triangular head shape called trigonocephaly (see the figure below).

How common is Metopic craniosynostosis?

Metopic synostosis is the second most common form of craniosynostosis comprising approximately 20-25 percent of all cases.

Is trigonocephaly serious?

Some children have very mild cases of metopic synostosis that do not require specific treatment. In more serious cases, however, the condition can cause: developmental delays. learning and behavioral problems.

Is trigonocephaly genetic?

The underlying genetic cause of isolated trigonocephaly remains to be delineated. However, the concordance rate of isolated trigonocephaly in monozygotic twins is 43%, suggesting that both genetic and environmental factors are involved in the etiology of this disorder.

How common is trigonocephaly?

Metopic craniosynostosis is the premature closure of the metopic suture that causes trigonocephaly – a triangle shaped head. Metopic synostosis is the second most common form of craniosynostosis comprising approximately 20-25 percent of all cases.

What causes trigonocephaly?

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.