Acrodysostosis: Difference between revisions

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{{Infobox medical condition (new)
{{Short description|A rare genetic disorder affecting bone growth}}
| name            = Acrodysostosis syndrome
| synonyms        = '''Arkless-Graham syndrome'''<ref>{{cite journal |vauthors =Arkless R, Graham CB |title=An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? |journal=Am J Roentgenol Radium Ther Nucl Med |volume=99 |issue=3 |pages=724–35 |year=1967 |pmid=6020652 |doi= 10.2214/ajr.99.3.724|url=}}</ref>, '''Maroteaux-Malamut syndrome'''<ref>{{cite journal |vauthors =Maroteaux P, Malamut G |title=[Acrodysostosis] |language=French |journal=Presse Med |volume=76 |issue=46 |pages=2189–92 |year=1968 |pmid=5305130 |doi= |url=}}</ref><ref>{{WhoNamedIt|synd|1623}}</ref>
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'''Acrodysostosis''' is a rare [[congenital malformation]] syndrome which involves shortening of the interphalangeal [[joints]] of the [[Interphalangeal articulations of hand|hands]] and [[interphalangeal articulations of foot|feet]], [[intellectual disability]] in approximately 90% of affected children, and peculiar [[craniofacial abnormality|facies]]. Other common [[abnormalities]] include short head (as measured front to back), small broad upturned [[nose]] with flat [[nasal bridge]], [[prognathism|protruding jaw]], increased [[bone age]], [[intrauterine growth restriction|intrauterine growth retardation]], [[juvenile arthritis]] and [[short stature]]. Further [[congenital abnormality|abnormalities]] of the [[Cutaneous condition|skin]], [[genitals]], [[Tooth abnormality|teeth]], and [[Musculoskeletal abnormality|skeleton]] may occur.{{citation needed|date=July 2017}}
'''Acrodysostosis''' is a rare [[genetic disorder]] characterized by [[skeletal dysplasia]], which affects bone growth and development. This condition is typically evident at birth or in early childhood and is marked by distinctive facial features, short stature, and abnormalities in the hands and feet.
==Cause==
Most reported cases have been sporadic, but it has been suggested that the condition might be [[Genetics|genetically]] related i.e. in an [[autosomal dominant]] mode of [[Transmission (genetics)|transmission]]. Both males and females are affected. The disorder has been associated with the [[Advanced maternal age|older age of parents]] at the time of [[Fertilisation|conception]].


A [[PRKAR1A]] [[mutation]] has been identified in acrodysostosis with [[hormone]] resistance.<ref name="pmid21651393">{{cite journal |vauthors =Linglart A, Menguy C, Couvineau A |title=Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance |journal=N. Engl. J. Med. |volume=364 |issue=23 |pages=2218–26 |date=June 2011 |pmid=21651393 |doi=10.1056/NEJMoa1012717 |display-authors=etal}}</ref>
==Signs and Symptoms==
Individuals with acrodysostosis often present with a variety of physical characteristics and developmental challenges. Common features include:


== '''Symptoms''' ==
* '''Facial Features''': A prominent forehead, a flat nasal bridge, and a small upturned nose are typical facial characteristics. The ears may be low-set, and the mouth may appear small.
Symptoms of this disorder include:
* '''Skeletal Abnormalities''': Shortened bones in the hands and feet, known as brachydactyly, are common. The fingers and toes may be stubby, and there may be limited joint mobility.
* Frequent middle ear infections
* '''Short Stature''': Affected individuals often have a shorter than average height due to the abnormal development of bones.
* Growth problems, short arms and legs
* '''Developmental Delays''': Some individuals may experience delays in reaching developmental milestones, and there may be intellectual disability in some cases.
* Hearing problems
* '''Hearing Loss''': Conductive hearing loss can occur due to structural abnormalities in the ear.
* [[Intellectual disability]]
 
* The body doesn't respond to certain hormones, even though hormone levels are normal
==Genetics==
* Distinct facial features
Acrodysostosis is primarily caused by mutations in the [[PRKAR1A]] or [[PDE4D]] genes. These genes are involved in the regulation of [[cyclic AMP]] (cAMP) signaling pathways, which play a crucial role in bone growth and development. The condition is inherited in an [[autosomal dominant]] pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.


==Diagnosis==
==Diagnosis==
The health care provider can usually diagnose this condition with a physical exam. This may show any of the following:
Diagnosis of acrodysostosis is based on clinical evaluation, characteristic physical findings, and [[radiographic]] imaging that reveals the skeletal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the PRKAR1A or PDE4D genes.
* Advanced bone age
* Bone deformities in hands and feet
* Delays in growth
* Problems with the skin, genitals, teeth, and skeleton
* Short arms and legs with small hands and feet
* Short head, measured front to back
* Short height
* Small, upturned broad nose with flat bridge
* Distinct features of the face (short nose, open mouth, jaw that sticks out)
* Unusual head
* Wide-spaced eyes, sometimes with extra skin fold at corner of eye


In the first months of life, [[x-rays]] may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:
==Management==
* Abnormally short fingers and toes
There is no cure for acrodysostosis, and treatment focuses on managing symptoms and improving quality of life. This may include:
* Early growth of bones in the hands and feet
* Short bones
* Shortening of the forearm bones near the wrist
* Two genes have been linked with this condition, and genetic testing may be done.


==Treatment==
* '''Orthopedic Interventions''': Surgery may be necessary to correct severe skeletal deformities or to improve joint function.
* Treatment depends on the symptoms.
* '''Hearing Aids''': For those with hearing loss, hearing aids or other assistive devices can be beneficial.
* Hormones, such as [[growth hormone]], may be given.  
* '''Developmental Support''': Early intervention programs, including physical therapy, occupational therapy, and special education services, can help address developmental delays and learning difficulties.
* Surgery to treat bone problems may be done.


==Epidemiology==
==Prognosis==
This disorder is present at birth, however, it may not be understood until several years after birth. Acrodysostosis affects males and females in almost similar numbers. It is difficult to determine the frequency of acrodysostosis in the population as many cases of this disorder cannot be diagnosed properly.<ref>http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/613/printFullReport</ref>
The prognosis for individuals with acrodysostosis varies depending on the severity of symptoms and the presence of associated conditions. With appropriate management and support, many individuals can lead fulfilling lives.


==References==
==Related Pages==
{{reflist}}
* [[Skeletal dysplasia]]
* [[Genetic disorder]]
* [[Brachydactyly]]
* [[Autosomal dominant]]


==Further reading==
[[Category:Genetic disorders]]
*{{cite web |url=http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acrodysostosis |title=Acrodysostosis: Disease Information from NORD |format= |work=National Organization for Rare Disorders |accessdate=}}
[[Category:Skeletal disorders]]
*{{RareDiseases|5724|Acrodysostosis}}
== External links ==
{{Medical resources
|  DiseasesDB    = 31405
|  ICD10          = Q75.4
|  ICD9          = 
|  ICDO          = 
|  OMIM          = 101800
|  MedlinePlus    = 001248
|  eMedicineSubj  = 
|  eMedicineTopic = 
|  MeshID        = C538179
|  Orphanet      = 950
}}
[[Category:Congenital disorders]]
[[Category:Rare diseases]]
[[Category:Syndromes with craniofacial abnormalities]]
{{No image}}

Revision as of 19:11, 22 March 2025

A rare genetic disorder affecting bone growth


Acrodysostosis is a rare genetic disorder characterized by skeletal dysplasia, which affects bone growth and development. This condition is typically evident at birth or in early childhood and is marked by distinctive facial features, short stature, and abnormalities in the hands and feet.

Signs and Symptoms

Individuals with acrodysostosis often present with a variety of physical characteristics and developmental challenges. Common features include:

  • Facial Features: A prominent forehead, a flat nasal bridge, and a small upturned nose are typical facial characteristics. The ears may be low-set, and the mouth may appear small.
  • Skeletal Abnormalities: Shortened bones in the hands and feet, known as brachydactyly, are common. The fingers and toes may be stubby, and there may be limited joint mobility.
  • Short Stature: Affected individuals often have a shorter than average height due to the abnormal development of bones.
  • Developmental Delays: Some individuals may experience delays in reaching developmental milestones, and there may be intellectual disability in some cases.
  • Hearing Loss: Conductive hearing loss can occur due to structural abnormalities in the ear.

Genetics

Acrodysostosis is primarily caused by mutations in the PRKAR1A or PDE4D genes. These genes are involved in the regulation of cyclic AMP (cAMP) signaling pathways, which play a crucial role in bone growth and development. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of acrodysostosis is based on clinical evaluation, characteristic physical findings, and radiographic imaging that reveals the skeletal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the PRKAR1A or PDE4D genes.

Management

There is no cure for acrodysostosis, and treatment focuses on managing symptoms and improving quality of life. This may include:

  • Orthopedic Interventions: Surgery may be necessary to correct severe skeletal deformities or to improve joint function.
  • Hearing Aids: For those with hearing loss, hearing aids or other assistive devices can be beneficial.
  • Developmental Support: Early intervention programs, including physical therapy, occupational therapy, and special education services, can help address developmental delays and learning difficulties.

Prognosis

The prognosis for individuals with acrodysostosis varies depending on the severity of symptoms and the presence of associated conditions. With appropriate management and support, many individuals can lead fulfilling lives.

Related Pages

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