Aperts Syndrome

Doctor's Report

Symptoms	Mostly head/skull structure. Can affect cardiac and intestinal functions. Deformed skull Holes in the ventricles of the heart possible Smaller abdomen, smaller opening for lower part of the stomach and the upper part of the small intestine Blocked esophagus possible Misplaced Anus
Treatment Options	Apert Syndrome is lifelong, with no cure available. Skull reconstruction is possible Surgery to relieve pressure to the brain is possible Otolaryngologists, Neurosurgeons, and Physical Therapists are specialists that will be able to help
Statistics	1 in 65000 people have this condition Over 300 cases have been reported since its discovery in 1894 Asian individuals have been reported to have the highest incidence of Apert syndrome
Other	Research on a possible gene therapy for craniosynostosisA condition in which the growth pattern of the skull changes. is being conducted

Gene Therapist Report

In 95% of patients, Apert Syndrome is caused by a new mutation. However, in the other 5 percent, it’s a dominant autosomal syndrome.
Apert Syndrome is caused by a mutation in the FGFR2 gene (on the tenth chromosome)
The FGFR2 gene is known to cause other skull-structure based disorders (like Crouzon Syndrome and Antley-Bixler syndrome), and may be linked to cleft lip.
If we assume this disorder is inherited (rather than mutated), for a child to have this disorder, at least one parent must have it.

The most common genotype of someone with Aperts is Aa, but people with aperts can also be AA. You cannot be a carrier for Aperts.
If your genotype is Aa, and you cross with an unaffected parent, there is a 50% chance of passing the gene on to your child.
If your Genotype is AA, no matter the genotype of the other parent, the child will have Apert’s Syndrome.

Aperts No Aperts

Parent's Report

Daily Life Changes	Hearing problems and developmental delay. Lower IQ.
Accommodations	Hearing problems, might need hearing aids Cranial Reconstruction Might need schooling accommodations, because of developmental delay
Costs	Craniosynostosis reconstruction may be covered by health insurance $55,000 1 year median cost
Emotional Impact	Child may experience bullying and social exclusion In some circumstances, child may have a shorter life/may die
Other	Lots of online support groups Cranio Utah Child may experience some social exclusion or bullying because of facial structure or intelligence problems

Community Resources

Primary Children's Hospital Craniofacial/Cleft Palate Clinic	81 N Mario Capecchi Dr, Salt Lake City, UT 84113 801-662-1630
The Craniofacial Foundation of Utah	5089 S 900 E, Salt Lake City, UT 84117 (801) 743-0700 Website
MyFace	https://www.myface.org/ 333 East 30th Street, Lobby Office New York, NY 10016 917-720-4701 info@myface.org
National Craniofacial association	https://www.faces-cranio.org/ P.O. Box 11082 \| Chattanooga, TN 37401 \| USA (800) 332-2373

Apert's Syndrome