Acromicric dysplasia

Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature.^[2] Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.

Acromicric dysplasia
Other names	Acromicric skeletal dysplasia [1]

The disorder is different from, but similar to, other syndromic entities such as geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome.^[3]

Genetics

This condition has been associated with mutations in the Fibrillin 1 (FBN1) gene.^[4]

Mutations in this gene have also been associated with stiff skin syndrome, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome.^[5][6]