There are to date no real treatment alternatives to surgery for children with syndromic craniosynostosis.
Cranial Orthotic Molding Therapy
- Not effective: Molding helmets are not effective in syndromic multisutural craniosynostosis and are not recommended unless a minimally invasive route is taken.
- Dominant inheritance: The common craniosynostosis syndromes all show dominant inheritance and a relatively high proportion of new mutations.
- Difficulty in establishing point of mutation: Genetic counseling for the parents of a child with an apparently new mutation can be made difficult by uncertainties over the recurrence risk attributable to occult germline mosaicism in a parent. The mosaicism might be either in the patient, indicating a very low recurrence risk for the parents, or in a parent, indicating an offspring risk to daughters of up to 50% if the mother is the mosaic or up to 100% if the father is the mosaic.
- Difficult to establish indication of syndromes in in-utero screening: In contrast to the presence of an EFNB1 mutation, the recurrence risk is low for parents with a child with an FGFR mutation. FGFR mutations seem to arise because of a selective advantage of the mutation in spermatogonial stem cells after puberty. While this gives rise to the exceptionally high apparent rates observed for specific mutations in the FGFR genes, the origin of these mutations in adulthood means that they are unlikely to reach sufficient levels in sperm to make recurrence a likely possibility (47, 48). Therefore, the risk-benefit ratio of genetic prenatal diagnosis needs to be weighed carefully before proceeding with an invasive diagnostic procedure on the fetus.