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Acheiropodia
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| Acheiropodia | |
|---|---|
| Other names | Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type) |
 | |
| Acheiropodia has an autosomal recessive pattern of inheritance | |
Alternate names
Acheiropodia; ACHP; Acheiropody, Brazilian type
Definition
Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet.
Epidemiology
With the exception of a couple of affected individuals in Puerto Rico, all other reported cases have occurred in Brazil.
Cause
It is caused by a defect in the LMBR1 gene.
Inheritance
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.
Signs and symptoms
- 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.
Clinical presentation
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
- Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
- Absent forearm
- Absent hand
- Absent metatarsal bone(Absent long bone of foot)
- Absent radius(Missing outer large bone of forearm)
- Absent toe
- Aplasia of metacarpal bones(Absent long bone of hand)
- Aplasia of the phalanges of the hand
- Aplasia of the tarsal bones(Absent ankle bone)
- Aplasia of the ulna
- Carpal bone aplasia
- Fibular aplasia(Absent calf bone)
- Lower limb peromelia
- Short humerus(Short long bone of upper arm)
- Short tibia(Short shinbone)
- Upper limb phocomelia
Diagnosis
Management
Walking may be possible for individuals with acheiropody with well-fitted prostheses.
NIH genetic and rare disease info
Acheiropodia is a rare disease.
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