Fibrodysplasia Ossifcans Progressiva OMIM (Visit this link)
This rare disorder is characterized by physical handicap due to intermittently progressive ectopic ossification and malformed big toes which are often monophalangic. Occasional features include short thumbs, fifth finger clinodactyly, malformed cervical vertebrae, short broad femoral necks, deafness, scalp baldness, and mild mental retardation. Although most cases are sporadic, several examples of affected twins and triplets have been reported. Furthermore, dominant inheritance is supported by observations of 2 or 3 successive generations affected and the finding of a paternal age effect in sporadic cases (Tuente et al., 1967). Connor and Evans (1982) found a point prevalence of 0.61 per million in the United Kingdom and gave a direct estimate of the mutation rate of 1.8 per million gametes per generation
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Added: Fri Jun 22 2007
