Apert syndrome: the Paris and Rotterdam philosophy

C. Driessen, M. L. C. van Veelen, K. F. M. Joosten, S. L. Versnel, C. A. van Nieuwenhoven, E. B. Wolvius, H. H. Bredero-Boelhouwer, E. Arnaud, I. M. J. Mathijssen
2017 Expert Opinion on Orphan Drugs  
Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. This review includes background information about the syndrome and several aspects of the treatment. Areas covered: The cause of Apert syndrome is found in unique mutations in the Fibroblast Growth Factors Receptor (FGFR) 2 gene in 99%. It results in cranial suture fusion, craniofacial dysmorphologies and
more » ... rphologies and severe symmetrical syndactyly of the hands and feet. Patients with Apert syndrome are at risk for mental retardation, mobility impairment and intracranial hypertension (ICHT). This is the result of a complex interaction between (1) abnormal skull growth, (2) ventriculomegaly, (3) venous outflow obstruction and (4) obstructive sleep apnea (OSA). Mental retardation is mainly determined by the FGFR2 mutation and treatment is directed at protecting the intrinsic potential of neurocognition. Expert Opinion: To prevent ICHT, we prefer an occipital expansion in the first year of life. Screening on ICHT and its underlying causes is necessary at least until the age of ten by means of skull circumference measurements, fundoscopy, optical coherence tomography, MRI and polysomnography. Multicentre studies on long-term outcome are required to validate the rationale of different clinical protocols. ARTICLE HISTORY
doi:10.1080/21678707.2017.1335195 fatcat:vbuh4kdhsjav3enveaiyrttqj4