Acheiropodia

From WikiMD's free health, diet & wellness encyclopedia
(Redirected from Acheiropody)
Jump to navigation Jump to search


Editor-In-Chief: Prab R. Tumpati M.D.. Founder, WikiMD and W8MD Weight Loss, Sleep and MedSpa Centers. Dr. Tumpati is board certified physician practicing sleep medicine, obesity medicine, aesthetic medicine and internal medicine. Dr. Tumpati’s passion is prevention rather than cure. As a physician with fellowship training in Obesity Medicine, Dr. Tumpati has a unique approach to wellness, weight loss, aesthetics with a focus on prevention rather than cure. Dr. Tumpati believes in educating the public on the true science and art of medicine, nutrition, wellness and beauty.

WikiMD Resources for Acheiropodia
Articles
Most recent articles on Acheiropodia

Most cited articles on Acheiropodia Review articles on Acheiropodia

Articles on Acheiropodia in N Eng J Med, Lancet, BMJ

Media
Powerpoint slides on Acheiropodia

Images of Acheiropodia Photos of Acheiropodia

Podcasts & MP3s on Acheiropodia Videos on Acheiropodia

Evidence Based Medicine
Cochrane Collaboration on Acheiropodia

Bandolier on Acheiropodia TRIP on Acheiropodia

Clinical Trials
Ongoing Trials on Acheiropodia at Clinical Trials.gov

Trial results on Acheiropodia Clinical Trials on Acheiropodia at Google

Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Acheiropodia

NICE Guidance on Acheiropodia NHS PRODIGY Guidance

FDA on Acheiropodia CDC on Acheiropodia

Books
Books on Acheiropodia
News
Acheiropodia in the news

Be alerted to news on Acheiropodia News trends on Acheiropodia

Commentary
Blogs on Acheiropodia
Definitions
Definitions of Acheiropodia
Patient Resources / Community
Patient resources on Acheiropodia

Discussion groups on Acheiropodia Patient Handouts on Acheiropodia

Directions to Hospitals Treating Acheiropodia Risk calculators and risk factors for Acheiropodia

Healthcare Provider Resources
Symptoms of Acheiropodia

Causes & Risk Factors for Acheiropodia Diagnostic studies for Acheiropodia

Treatment of Acheiropodia

Continuing Medical Education (CME)
CME Programs on Acheiropodia
International / other languages

en Espanol en Francais

Business
Acheiropodia in the Marketplace

Patents on Acheiropodia

Experimental / Informatics
List of terms related to Acheiropodia
Acheiropodia
Other namesHorn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type)
Autorecessive.svg
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

Autosomal recessive inheritance, a 25% chance

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.

 

Acheiropodia is part of WikiMD's free ^articles!

^Acheiropodia (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available