ACHEIROPODIA: WHAT IS ACHEIROPODIA?

SIGNS SYMPTOMS / DISEASES INDEX (A) / ACHEIROPODIA: WHAT IS ACHEIROPODIA?
Read about acheiropodia medical facts: what is the definition of acheiropodia, what are the signs and symptoms, information about the causes, prevalence, and related acheiropodia diseases.

Definition: What is "Acheiropodia"?

ACHEIROPODIA

Acheiropodia is a disorder that is autosomal recessive in nature & which results into hemimelia (or the lack of distal extremities formation). This is an inborn defect consisting of aplasia of the patient's feet & hands & also distal lower & upper extremities bilateral amputations. This disease is found almost solely in Brazil. Other terms for this disorder include Acheiropody, Horn Kolb syndrome & Aleijadinhos (the Brazilian kind).

Symptoms & Signs

The two most apparent symptoms are the absence of feet & hands. Sometimes the feet just appear malformed. Deformity of the limb bones is the most common complication that results from Acheiropodia.

Causes

This disorder is caused by a deletion of the C7orf2 gene (human orthologue of the Lmbr1 gene).

Prevalence

This disorder falls under the category of rare diseases as it only affects less than 200,000 of individuals in the United States. This classification was set by the Office of Rare Diseases.



Share on Google Plus Share on Facebook Share on Twitter Share on LinkedIn

Home | About | Contact | Privacy Policy | Sitemap
Copyright 2018 © SignsSymptoms.org - All Rights Reserved