SCIENTIFIC BACKGROUND

FGFR2

Apert syndrome occurs with a frequency of 1: 50,000–100,000 and accounts for around 5% of all craniosynostoses. The coronal, sagittal and/or the lambdoid suture are usually affected. The result is turribrachycephaly (abnormal cranial height) with midface hypoplasia, exophthalmos, hypertelorism, and relative mandibular prognathism. The anterior fontanelle is usually very large and closes late. The palate can be narrow and high; cleft palates also occur. Pronounced syndactyly of hands and feet is characteristic, whereby digits II to IV are usually completely fused. Thumbs and big toes are usually widened and may show an axial deviation. There can also be associated malformations, such as fusions of cervical vertebrae. Intelligence is below average in about half of those affected.

 

Apert syndrome is sporadic in 98% of cases and autosomal-dominantly inherited in 2%. In sporadic cases, the paternal age is above average and the causative variants always occur on the paternal allele (paternal age effect). 99% of those affected carry one of two missense variants in the FGFR2 gene (S252W or P253R).

GENES

FGFR2
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