Acheiropodia

Synonyms

5

Overview

Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner. Walking may be possible for individuals with acheiropody with well-fitted prostheses. With the exception of a couple of affected individuals in Puerto Rico, all other reported cases have occurred in Brazil.

Symptoms

  • Abnormality of epiphysis morphology
  • Abnormality of the humerus
  • Abnormality of the metaphyses
  • Abnormality of the tibia
  • Abnormality of the ulna
  • Absent forearm
  • Absent hand
  • Absent metatarsal bone
  • Absent radius
  • Absent toe
  • Absent ulna
  • Aplasia of metacarpal bones
  • Aplasia of the phalanges of the hand
  • Aplasia of the tarsal bones
  • Aplasia/Hypoplasia of the radius
  • Carpal bone aplasia
  • Fibular aplasia
  • Lower limb peromelia
  • Short humerus
  • Short tibia
  • Upper limb phocomelia

Causes

Acheiropody is inherited in an autosomal recessive manner. This means that an individual with the condition has two changed (mutated) copies of the gene that causes the condition in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition; they are referred to as "carriers." When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier.

Acheiropody is inherited in an autosomal recessive manner. This means that an individual with the condition has two changed (mutated) copies of the gene that causes the condition in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition; they are referred to as "carriers." When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier.

Diagnosis

  • The Genetic Testing Registry (GTR)

Resources

  • NIH