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Re: Apert's SyndromeFrom: Bert Gold (bgold@itsa.ucsf.EDU)Sun Aug 4 23:23:34 1996
Apert's is an autosomal dominant craniosynostosis with a high mutation rate due to advanced PATERNAL age; it's prevalence is 1/65,000 and it is severe. It is caused by mutation in two adjacent amino acids in the FGFR2 gene (Fibroblast Growth Factor Receptor 2) gene, at chromosome 10q25-26. Clinical findings include craniosynostosis, (which may require surgery), a tall, flat head, proptosis, small nose and flat midface with often severe mitten-like syndactyly of the hands and feet (the syndactyly is often both bony and cutaneous). Learning disabilities or mental retardation and other skin, brain and internal organ problems are often present. Joan Weiss is a social worker who runs the Alliance of Genetic Support Groups out of an office near Dr. McKusick's at Hopkins. You can reach her and her colleagues by asking 800 directory assistance for the telephone number. The Alliance should be able to provide you with support group information. I believe Little People of America, which offers support for those affected with achondroplasia, will provide support for Apert's. If you need more info. let me know.
-- Bert Gold, Ph.D. "Seeing much, Suffering much, University of California, San Francisco and studying much, School of Medicine These are the three pillars Program in Medical Genetics of learning." -- Benjamin Disraeli
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