Acheiropodia: Difference between revisions

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{{refimprove|date=August 2008}}
 
{{Infobox medical condition (new)
{{Infobox medical condition
| name           = Acheiropodia
| name = Acheiropodia
| image           = Image:Autorecessive.svg
| image = <!-- Image removed -->
| caption= Acheiropodia has an autosomal recessive pattern of [[inheritance]]  
| caption = <!-- Caption removed -->
| symptoms       =  
| field = [[Medical genetics]]
| synonyms='''Horn-Kolb Syndrome''', '''Acheiropody''' and '''Aleijadinhos (Brazilian type)'''
| symptoms = [[Congenital absence]] of hands and feet
| onset           =  
| onset = [[Birth]]
| duration       =
| duration = [[Lifelong]]
| types          =  
| causes = [[Genetic mutation]]
| causes         =
| diagnosis = [[Clinical examination]], [[Genetic testing]]
| risks          =  
| treatment = [[Supportive care]]
| diagnosis       =
| frequency = [[Rare disease]]
| differential    =
| prevention      =  
| treatment       =
| medication      =
| prognosis      =  
| frequency       =
| deaths          =  
}}
}}


== '''Alternate names''' ==
'''Acheiropodia''' is a rare [[genetic disorder]] characterized by the congenital absence of hands and feet. This condition is inherited in an [[autosomal recessive]] pattern and is caused by mutations in the [[LMBR1 gene]].
Acheiropodia; ACHP; Acheiropody, Brazilian type
 
== '''Definition''' ==
Acheiropody is a very rare condition characterized by bilateral, congenital [[Amputation|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''' ==
== Presentation ==
[[File:Autorecessive.svg|thumb|right|Autosomal recessive inheritance, a 25% chance]]
Individuals with acheiropodia are born without hands and feet, a condition known as [[amelia]]. The absence of these limbs is due to a disruption in the normal development of the [[limb bud]] during [[embryogenesis]].
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''' ==
== Genetics ==
* 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.
Acheiropodia is caused by mutations in the [[LMBR1 gene]], which is located on [[chromosome 7]]. This gene is involved in the [[sonic hedgehog signaling pathway]], which plays a crucial role in the development of limbs. The condition follows an [[autosomal recessive]] inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.


== '''Clinical presentation''' ==
== Diagnosis ==
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
Diagnosis of acheiropodia is primarily based on [[clinical examination]] and the characteristic absence of hands and feet. [[Genetic testing]] can confirm the diagnosis by identifying mutations in the LMBR1 gene.


'''80%-99% of people have these symptoms'''
== Management ==
* Abnormality of [[epiphysis]] morphology(Abnormal shape of end part of bone)
There is no cure for acheiropodia, and management focuses on [[supportive care]] to improve the quality of life for affected individuals. This may include the use of [[prosthetic devices]], [[physical therapy]], and [[occupational therapy]] to enhance mobility and independence.
* 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 bone]]s(Absent long bone of hand)
* Aplasia of the phalanges of the hand
* Aplasia of the [[tarsal bone]]s(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''' ==
== Epidemiology ==
Acheiropodia is an extremely rare condition, with only a few cases reported in the medical literature. It is more commonly observed in certain [[isolated populations]] where [[consanguinity]] is more prevalent.


== '''Management''' ==
== See also ==
Walking may be possible for individuals with acheiropody with well-fitted [[prostheses]].
* [[Amelia (birth defect)]]
* [[Limb development]]
* [[Genetic disorders]]


== References ==
<references />


== External links ==
* [https://www.omim.org/entry/200500 OMIM entry on Acheiropodia]
* [https://rarediseases.info.nih.gov/diseases/107/acheiropodia Rare Diseases Information on Acheiropodia]


{{Congenital malformations and deformations of musculoskeletal system}}
[[Category:Genetic disorders with limb abnormalities]]
 
[[Category:Congenital disorders of musculoskeletal system]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Congenital amputations]]
[[Category:Congenital disorders]]
[[Category:Syndromes]]
{{rarediseases}}
 
{{genetic-disorder-stub}}

Revision as of 17:21, 27 December 2024


Acheiropodia
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Congenital absence of hands and feet
Complications N/A
Onset Birth
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks N/A
Diagnosis Clinical examination, Genetic testing
Differential diagnosis N/A
Prevention N/A
Treatment Supportive care
Medication N/A
Prognosis N/A
Frequency Rare disease
Deaths N/A


Acheiropodia is a rare genetic disorder characterized by the congenital absence of hands and feet. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the LMBR1 gene.

Presentation

Individuals with acheiropodia are born without hands and feet, a condition known as amelia. The absence of these limbs is due to a disruption in the normal development of the limb bud during embryogenesis.

Genetics

Acheiropodia is caused by mutations in the LMBR1 gene, which is located on chromosome 7. This gene is involved in the sonic hedgehog signaling pathway, which plays a crucial role in the development of limbs. The condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of acheiropodia is primarily based on clinical examination and the characteristic absence of hands and feet. Genetic testing can confirm the diagnosis by identifying mutations in the LMBR1 gene.

Management

There is no cure for acheiropodia, and management focuses on supportive care to improve the quality of life for affected individuals. This may include the use of prosthetic devices, physical therapy, and occupational therapy to enhance mobility and independence.

Epidemiology

Acheiropodia is an extremely rare condition, with only a few cases reported in the medical literature. It is more commonly observed in certain isolated populations where consanguinity is more prevalent.

See also

References

<references />

External links

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