acrodysostosis(redirected from MIM 101800)
A disorder in which the hands and feet are short with stubby fingers and toes. Growth retardation is progressive. Mental retardation and marked nasal hypoplasia are also present; autosomal dominant inheritance.
[acro- + dysostosis]
AcrodysostosisAn autosomal dominant condition which primarily affects bone and is characterised by ocular hypertelorism, brachycephaly, small upturned broad nose with flat nasal bridge, protruding jaw, short arms and legs with deformities of the hands and feet, possibly with other defects of skin, genitals, teeth, and skeleton. It is usually associated with mental retardation and ear infections.
Imaging In early infancy, spotty calcium deposits—stippling in bones—especially in the nose, short bones.