Question 1

What is acheiropody?

Accepted Answer

Acheiropody is an extremely rare developmental disorder present from birth. It is characterized by the complete absence of the distal parts of the arms and legs. People with this condition are born with missing hands and feet, including the bones that would normally form these parts of the limbs.

This disorder is very rare and is noted to only affect the limbs. No other body systems have been reported to be affected. The description of the condition focuses on the unique limb deficiencies that are present from birth.

Question 2

What are the symptoms of acheiropody?

Accepted Answer

The main signs of acheiropody are the complete absence of the hands and feet, including missing bones in the arms and legs. This includes bilateral, congenital amputation of the distal parts of the limbs, such as the loss of the distal epiphysis of the humerus and parts of the tibial diaphysis. Other limb bones, like the radius, ulna, fibula, carpal, metacarpal, tarsal, metatarsal, and phalangeal bones, may also be absent. In very rare situations, an extra bone might be present at the end of the humerus.

Question 3

What causes acheiropody?

Accepted Answer

Acheiropody is caused by genetic factors and follows an autosomal recessive pattern. This means that children need to inherit two copies of the altered gene, one from each parent, to develop the condition. The gene known to be involved is LMBR1. Associated genes include LMBR1.

Question 4

How is acheiropody inherited?

Accepted Answer

acheiropody follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is acheiropody?

Accepted Answer

acheiropody is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is acheiropody diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for acheiropody?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from acheiropody?

Accepted Answer

Acheiropody mainly affects the limbs, leading to the absence of hands and feet. While there are no other body systems affected, individuals may face challenges with mobility and daily activities. These complications can vary from person to person, depending on how they adapt to their condition.

Question 9

How does acheiropody impact daily life?

Accepted Answer

Living with acheiropody can be challenging since individuals are born without hands and feet. This can affect daily tasks like dressing, eating, and moving around. Many people with this condition find ways to adapt and may use prosthetics or assistive devices to help them in their daily lives.

Question 10

What is the life expectancy for someone with acheiropody?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with acheiropody. Since this condition only affects the limbs and does not impact other body systems, many people can lead fulfilling lives. However, each person's situation is unique, and ongoing care and support are important.

Question 11

Are there specialists who can help manage acheiropody?

Accepted Answer

Yes, individuals with acheiropody may benefit from seeing specialists such as orthopedic doctors or rehabilitation therapists. These professionals can provide support and guidance on mobility aids and adaptations for daily living. They can also help with any specific needs related to the condition.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Carpal bone aplasia, Aplasia of the tarsal bones, Aplasia of metacarpal bones

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acheiropody

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

acheiropody

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is acheiropody?

What are the symptoms of acheiropody?

What causes acheiropody?

How is acheiropody inherited?

How rare is acheiropody?

How is acheiropody diagnosed?

Are there treatments for acheiropody?

What complications can arise from acheiropody?

How does acheiropody impact daily life?

What is the life expectancy for someone with acheiropody?

Are there specialists who can help manage acheiropody?

Explore clinical features