Definition:
Acrodysplasia or acrocephalosyndactyly is an uncommon medical condition which is often characterized by a bulbous nose, bony growths, and loose extra skin throughout infancy. This is also a very rare genetic disease. A synonymous word is acrocephalosyndactyly.
Symptoms and Signs:
The most common symptoms of acrodysplasia are short stature; sometimes fibular hypoplasia; and, in some cases, retardation of the patient's mental development.
Case Study:
A study was done in 1998 where the subject was a girl who manifested symptoms such as short stature; acute hypoplastic or aplastic changes of both the feet and hands; and dysfunction of the growth hormone neurosecretion. Parental consanguinity suggested an autosomal recessive trait that has been inherited.
Most patients do not have a family history of this illness. Since this is an autosomal recessive trait disorder, there is a very small chance that a couple could have more than one child who would suffer from acrodysplasia.
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