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Apert Syndrome

OMFP 1 2019

What is Apert Syndrome? A congenital disorder (meaning present at birth) that is characterized by malformations in the skull, face, hands, and feet
What type of syndrome is Apert Syndrome? And how does this affect the development of a person with Apert Syndrome? Branchial/Pharyngeal Arche Syndrome. Apert Syndrome starts with a disturbance with the 1st pharyngeal arch, which is the precursor for the maxilla and mandible bones.
What are 2 common features of Apert Syndrome? 1) Craniosynostosis (fusion of fetal skull and facial bones too early in utero) 2) Syndactyly (webbing of fingers and toes)
Craniosynostosis can involve various different sutures. How can this be observed in patients? Fusion of different sutures can mean a different growth pattern depending on which sutures fuse.
The etiology of Apert Syndrome is from a mutation in the _______ gene. This can be either from _____ or ________. 1) FGFR2 2) New mutation 3) Autosomal Dominant pattern of inheritance mutation
What is another factor that is associated with the presence of Apert Syndrome? (Hint: Family History) The biological father of the person with Apert Syndrome has an advanced paternal age.
List 5 clinical features of Apert Syndrome. 1) Acrobrachycephaly (coronal suture craniosynostosis) 2) Limb defects 3) Occular proptosis (bulging) and hypertelorism (increased distance between eyes) 4) Downward slanting of palpebral fissures 5) Mid face hypoplasia
List 6 more clinical features of Apert Syndrome. 6) Mouth breathing and sleep apnea 7) Middle ear infections and hearing loss 8) Mental retardation (common) 9) Acne like eruptions on the forearm 10) Flat occiput (back of head) and forehead 11) Syndactily of 2nd/3rd/4th digits and toes
What are some oral manifestations of Apert Syndrome? 1) Missing permanent teeth (commonly maxillary lateral incisors and/or mandibular 2nd premolars) 2) High arched and/or narrow hard palate 3) Crowding of teeth 4) Pseudo mandibular prognathism 5) Trapezoidal Lips 6) Cleft soft palate 7) Bifid uvula
What is the occurrence of people born with Apert Syndrome? 1/65,000 - 1/88,000 newborns
30% of people with Apert Syndrome have _____. Shovel shaped incisors
What are the microscopic features for Apert Syndrome? There are none.
T/F Gingival thickening and delayed eruption are some examples of oral manifestations of Apert Syndrome. True
How is Apert Syndrome diagnosed? A geneticist would analyze clinical findings combined with family history and a genetic analysis. The oral manifestations should lead the healthcare provider to believe a syndrome may be present, at which point a diagnosis would be needed.
What are the treatment options for people with Apert Syndrome? Multiple surgeries. An early craniectomy would be needed to open sutures. After stabilized, orthodontic treatment can help with oral deformities.
What would be on your differential diagnosis list? 1) Crouzon's Syndrome 2) Carpenter Syndrome 3) Pfeiffer Syndrome
Created by: chiara.lewis
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