ACRODYSPLASIA: WHAT IS ACRODYSPLASIA?

SIGNS SYMPTOMS / DISEASES INDEX (A) / ACRODYSPLASIA: WHAT IS ACRODYSPLASIA?
Read about acrodysplasia medical facts: what is the definition of acrodysplasia, what are the signs and symptoms, case study, and related acrodysplasia diseases.

Definition: What is "Acrodysplasia"?

ACRODYSPLASIA

Acrodysplasia or acrocephalosyndactyly is an uncommon medical condition which is often characterized by a bulbous nose, bony growths & loose extra skin throughout infancy. This is also a very rare genetic disease. A synonymous word is acrocephalosyndactyly.

Symptoms & 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 & hands; & 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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