Craniofacial anomalies – Apert syndrome
Apert syndrome is associated with craniosynostosis (premature closure of the sutures of the skull). Of those who have craniosynostosis, 4-5% have Apert syndrome. Other features are also associated with this syndrome. People often have some degree of hearing loss. The fingers and toes are commonly partially or completely fused, and the thumb and big toe may be wider than normal. People with Apert syndrome may have a cleft palate and a flat face and they are also at increased risk for learning problems. The upper jaw is often smaller than normal (maxillary hypoplasia). Their teeth may erupt a little later than those without Apert syndrome. When the teeth do erupt they may be crowded. There may be fusion of some bones in the neck and some differences in the arms that can be seen on X-ray. Occasionally babies with Apert syndrome may have heart or kidney problems. People with Apert syndrome may also be shorter than their family members.
What causes Apert syndrome?
The gene involved with Apert syndrome is FGFR2 (this stands for fibroblast growth factor receptor 2). FGFR genes are involved in the way our bones are formed. There are four FGFR genes, which are numbered 1 through 4. FGFR2 is on chromosome 10.
Can Apert syndrome occur more than once in a family?
Most cases of Apert syndrome are sporadic. This means that there is no family history of the syndrome and it is unlikely to occur again in another pregnancy. However if you have Apert syndrome, you have a 1 in 2 or a 50% chance of having a child with Apert syndrome for each pregnancy. This is because Apert syndrome is inherited in an autosomal dominant manner.
Is genetic testing available?
A genetic test is available, performed on a blood sample. The test detects a gene change in greater than 98% of people with Apert syndrome.
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- Jones K.L., Smith’s Recognizable Patterns of Human Malformation. 5th Edition. W.B. Soliders Company A Division of Harcourt Brace and Company, 1997.
- Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 101200: 2000: