Acheiropodia

Definition

Definition of Acheiropodia
Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

Symptoms

Symptoms of Acheiropodia
The list of signs and symptoms mentioned in various sources for Acheiropodia includes the 2 symptoms listed below:

1. Absence of Hands
2. Absence of Feet

Causes

Causes of Acheiropodia
Consider researching the causes of these these diseases that may be similar, or associated with Acheiropodia:

1. Horn Kolb syndrome
2. Autosomal recessive disorder
3. Congenital defects
4. Bilateral amputation
5. Hemimelia
6. Aplasia of the hands and feet
7. Bilateral amputations
8. Aplastic hands

Complications

Complications of Acheiropodia
Complications and sequelae of Acheiropodia from the Diseases Database include:

1. Limb bone deformity

Treatment

Treatment of Acheiropodia
Treatment of Acheiropodia by pharmaceuticals.