Achondroplasia
(see also: Pseudoachondroplasia) Discussion autosomal dominant disorder; arises due to a point mutation for the gene encoding a fibroblast growth factor (Fibroblast growth factor receptor 3) over 80% of all persons with this disorder are born to parents who are not achondroplastic, & such parents rarely have second achondroplastic child; it is presumed in these … Read more