Today’s guest post on genetic syndromes comes from Rebecca Freeh Thornburg, who is contributing information on the Apert Syndrome. Rebecca is a repeated guest blog contributor. Her informative guest post on the CHARGE Syndrome can be found HERE.
Apert Syndrome is a genetic condition resulting from a mutation in gene FGRF2 – fibroblast growth factor receptor 2 – on chromosome 10. Incidence estimates vary from 1 in 65,000 to 1 in 120,000 births. Most cases of Apert syndrome result from a new mutation, rather than being genetically inherited from a parent. Children born with Apert Syndrome are affected by characteristic craniofacial differences caused by premature fusion of the bones of the skull, as well and limb anomalies, especially fusion of skin of the fingers and/or toes. Multiple craniofacial and limb procedures, as well as other surgical interventions are often necessary to minimize the medical complications and cosmetic impact of the disorder. Continue reading Spotlight on Syndromes: An SLPs Perspective on Apert Syndrome