Acrodysplasia

Below you will find more information about Acrodysplasia from Medigest. If you believe that you are suffering from any of the symptoms of Acrodysplasia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Acrodysplasia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Acrodysplasia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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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