title: Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
abstract: OBJECTIVE
  More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses.
  
  
  METHODS
  A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis.
  
  
  RESULTS
  Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up.
  
  
  CONCLUSIONS
  Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
authors.forename: Nneamaka B
authors.initials: NB
authors.lastname: Agochukwu
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics / Q000266:history; D003398:Craniosynostoses / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005500:Follow-Up Studies; D049673:History, 20th Century; D006801:Humans; D009154:Mutation / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2