1. BY Milana Abayev DEN2311/D246 11/26/15
APERT SYNDROME
BY Milana Abayev
DEN2311/D246
11/26/15

2. Apert syndrom
It is a rare type I genetic disorder characterized by premature fusion of skull ( craniosynostosis).
It affects the normal growth of head and face and also extremities such as fused figures and toes (syndactyly).
Its happens due to the mutation of a gene called FGFR2, which produces a protein called fibroblast growth factor receptor 2. This gene stimulates constant signals that causes premature cells to become bone during embryonic phase.

3. Epidemiology:
It’s an autosomal dominant trait ( which means that only one parent is needed to pass on the defective gene).
It can happen sporadically to parents with no history of the disorder or with affected individuals which have 50% chance to pass it to their offspring's.
Male above the age 50 have a higher risk of having the defective gene.
It found in 1 in 65,000 to 88,000 newborns

4. Facial characteristics of Apert syndrome:
Sunken appearance of middle of the face.
Bulging and wide set of eyes
Depressed nasal bridge with beaked nose appearance.
Undeveloped upper jaw

5. Other Charecteristics of Apert Syndrome:
Fusion of fingers and toes
Short height
Hearing loss and frequent ear infections
Intelligence varies from normal to mental deficiency
Hyperhidrosis
Paronychial infections
Cardiovascular defects
Polycystic kidneys
Preventable visual loss
Optic atrophy
Sleep apnea
Patient might have social problems
Self-esteem problems

6. Oral manifestations: Bulging alveolar ridge Dentitio tarda
Trapezoid shaped mouth at rest
Maxillary hyperplasia
Lateral palatal swellings
Gingival hypertrophy
Multiple tooth agenesis
Shovel shaped incisors
High carries prevalence
Early tooth loss
Poor oral hygiene
Maxillary crowding
Malocclusion
Delayed dentition
V shaped maxillary arch
Bifid uvula
Cleft palate
Bulging alveolar ridge
Dentitio tarda
Some impacted, partial eruption teeth
Idiopthaic root resorption
Supernumerary teeth
Transposition of tooth germs

8. Prognosis:
Children require usually surgery to separate skull bones to allow for the brain to develop normally as possible
The surgery is usually done at early stages; the older the child, the the less chances he has to develop normal intellectual ability
Even with a early surgery, certain brain structure do not develop normally.
Usually children who are raised by their parents have a higher chance of achieving normal intellectual capability.
4 out of 10 kids have normal IQ.
About 18 institutionalized children reach normal IQ
3 out of 136 children will be able to attend college
Life expectancy varies between children

9. Treatment:
Since most the syndrome is sporadic, genetic testing is ineffective
If the carrier of the gene (affected individual) would like to reproduce offspring then genetic testing is recommended
No treatment is known to avoid the syndrome or treat it
Surgery is not a treatment of the disease, its only use is to better the quality of life of the individual
The first surgery would be to correct the abnormal bone growth of the skull at early stages of life (6-8 months). This procedure is necessary to relive pressure on the brain and provide brain growth, normal as possible
As the child grows facial bones again they become misaligned, a surgeon will perform another surgery to align the bones in to normal position (usually at age 4-12)
Corrective surgery might be required to fix the fussed fingers and toes
A ophthalmologist and an otolaryngologist might be needed incase of a hearing and vision problem and other related issues
Other specialist will be needed as patient will require other services

10. Dental treatment:
Both patient and guardian should learn oral hygiene instruction
Electrical toothbrush should be recommended
Short intervals appointments for professional prophylaxis
Chlorhexidine mouth rinse 0.2% may be used twice a day for 2 weeks
Depending on the patients case, DDS may choose to extract teeth and use orthodontic appliances to provide normal occlusion
Topical fluoride is recommended as a preventative measure
DDS may refer patient to a reconstructive surgeon to fix abnormality in the extremities it will provide patient the ability to use hands

12. Resources: http://ghr.nlm.nih.gov/condition/apert-syndrome
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