Congenital contractural arachnodactyly: Difference between revisions

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{{Infobox medical condition (new)
{{Short description|A rare genetic disorder affecting connective tissue}}
| name            = Congenital contractual arachnodactyly
| synonyms        = Beals syndrome; Beals–Hecht syndrome; Arachnodactyly, contractural Beals type; multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; Distal arthrogryposis type 9
| image          =
| pronounce      =
| field          =
| symptoms        = Tall, slender body; arm span exceeds height; long, slender fingers and toes; kyphoscoliosis; crumpled ear; joint stiffness
| complications  =
| onset          = Conception
| duration        =
| types          =
| causes          = Mutation of ''FBN2'' gene
| risks          =
| diagnosis      =
| differential    =
| prevention      =
| treatment      = Physical therapy for joint contractures; bracing and/or surgical correction for kyphoscoliosis
| medication      =
| prognosis      = Life expectancy depends on severity of symptoms but typically it is not shortened
| frequency      =
| deaths          =
}}
'''Congenital contractural arachnodactyly''' ('''CCA'''), also known as '''Beals syndrome''', is a rare [[autosomal dominant]] [[mwod:congenital|congenital]] [[connective tissue]] disorder.<ref name=":0">{{Cite web|url=https://rarediseases.info.nih.gov/diseases/5899/congenital-contractural-arachnodactyly|title=Congenital contractural arachnodactyly|last=NIH Genetic and Rare Diseases Information Center (GARD)|date=2017-01-31|website=rarediseases.info.nih.gov|language=en|access-date=2018-04-18}}</ref> As with [[Marfan syndrome]], people with CCA typically have an arm span that is greater than their height and [[Arachnodactyly|very long fingers and toes]].<ref name=":1">{{Cite book|chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK1386/|title=GeneReviews®: Congenital Contractural Arachnodactyly|last=Godfrey|first=Maurice|date=2012-02-23|publisher=University of Washington, Seattle|isbn=|editor-last=Adam|editor-first=Margaret P.|location=Seattle (WA)|pages=|chapter=Congenital Contractural Arachnodactyly|pmid=20301560|editor-last2=Ardinger|editor-first2=Holly H.|editor-last3=Pagon|editor-first3=Roberta A.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Bean|editor-first5=Lora JH|editor-last6=Stephens|editor-first6=Karen|editor-last7=Amemiya|editor-first7=Anne}}</ref> However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the [[Fibrillin 1|fibrillin-2]] (''FBN2'') gene rather than the [[fibrillin-1]] (''FBN1'') gene.<ref name=":0" /><ref>{{Cite journal|last=Hecht|first=F.|last2=Beals|first2=R. K.|date=April 1972|title="New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896|journal=Pediatrics|volume=49|issue=4|pages=574–579|issn=0031-4005|pmid=4552107}}</ref>


==Signs and symptoms==
'''Congenital contractural arachnodactyly''' (CCA), also known as '''Beals syndrome''', is a rare [[genetic disorder]] that affects the [[connective tissue]] in the body. It is characterized by [[arachnodactyly]], which refers to abnormally long and slender fingers and toes, and [[contractures]], which are permanent shortening of muscles or tendons around joints. This condition is similar to [[Marfan syndrome]], but it has distinct features and is caused by mutations in a different gene.
CCA is characterized by [[contracture]]s of varying degrees, mainly involving the large joints, which are present in all affected children at birth.<ref name=":0" /> The contractures may be mild and tend to improve over time, but permanently bent fingers and toes ([[camptodactyly]]) are almost always present.<ref name=":0" /><ref name=":2">{{Cite web|url=https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly|title=Congenital contractural arachnodactyly|year=2013|website=Genetics Home Reference|language=en|access-date=2018-04-18}}</ref> In addition to long fingers and toes and a tall, slender body, people with CCA often have [[Microtia|ears that appear to be crumpled]], joint stiffness and underdeveloped muscles (muscular [[hypoplasia]]), and they may have curved spines (congenital [[kyphoscoliosis]]).<ref name=":0" /><ref name=":1" /> If kyphoscoliosis is present, it often becomes progressively worse and may require surgery.<ref name=":1" /><ref>{{cite journal|vauthors=Tunçbilek E, Alanay Y|year=2006|title=Congenital contractural arachnodactyly (Beals syndrome)|journal=Orphanet J Rare Dis|volume=1|pages=20|doi=10.1186/1750-1172-1-20|pmc=1524931|pmid=16740166}}</ref> In some cases, the blood vessel that distributes blood from the heart to the rest of the body ([[aorta]]) may be abnormally enlarged ([[aortic root dilatation]]).<ref name=":2" />


==Causes==
==Genetics==
Congenital contractural arachnodactyly may be the result of new mutations in the ''FBN2'' gene or it may be inherited from a parent in an [[autosomal dominant]] pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.<ref name=":1" /> [[File:Autosomal dominant - en.svg|alt=diagram demonstrating autosomal dominant manner|thumb|Congenital contractural arachnodactyly is inherited in an autosomal dominant pattern.]]
Congenital contractural arachnodactyly is caused by mutations in the [[FBN2 gene]], which provides instructions for making a protein called [[fibrillin-2]]. Fibrillin-2 is an essential component of the [[extracellular matrix]], which provides structural support to tissues and organs. Mutations in the FBN2 gene lead to the production of an abnormal fibrillin-2 protein, disrupting the normal function of connective tissue.
 
CCA is inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. This means that an affected individual has a 50% chance of passing the mutation to their offspring.
 
==Clinical Features==
Individuals with congenital contractural arachnodactyly typically present with a range of clinical features, including:
 
* '''Arachnodactyly''': Long, slender fingers and toes.
* '''Contractures''': Permanent shortening of muscles or tendons, particularly affecting the elbows, knees, and fingers.
* '''Kyphoscoliosis''': A combination of [[kyphosis]] (outward curvature of the spine) and [[scoliosis]] (sideways curvature of the spine).
* '''Crumpled ears''': The outer ear may appear crumpled or folded.
* '''Muscle hypoplasia''': Underdevelopment of muscles, leading to reduced muscle mass and strength.
* '''Joint laxity''': Increased flexibility of the joints, which may lead to joint instability.


==Diagnosis==
==Diagnosis==
CCA may be diagnosed through the physical characteristics associated with the disease of long, slender body and contractures of multiple joints, as well as other symptoms, such as muscular hypoplasia.<ref name=":1" /> Molecular [[Genetic testing|genetic tests]] may be run using [[sequence analysis]] or [[Deletion (genetics)|deletion]]/[[Gene duplication|duplication]] analysis to look for mutations in the ''FBN2'' gene.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0220668/|title=Congenital contractural arachnodactyly|website=Genetic Testing Registry|language=en|access-date=2018-04-18}}</ref> Prenatal testing may be used for pregnancies with a risk of CCA, such as a parent or sibling with the disease.<ref name=":1" />
The diagnosis of congenital contractural arachnodactyly is based on clinical evaluation, family history, and genetic testing. A healthcare provider may suspect CCA based on the characteristic physical features and may confirm the diagnosis through genetic testing to identify mutations in the FBN2 gene.


==Management==
==Management==
Joint contractures are treated using physical therapy to increase mobility and to improve the effects of underdeveloped muscles.<ref name=":0" /> Braces and/or surgery may be required to correct kyphoscoliosis.<ref name=":0" /> Children born with CCA are usually tested using echocardiograms every two years until the risks of an enlarged aorta (aortic root dilation) have been ruled out.<ref name=":1" /> If this is detected, it is managed with standard care for this condition.<ref name=":1" />
There is no cure for congenital contractural arachnodactyly, but management focuses on alleviating symptoms and improving quality of life. Treatment options may include:
 
* '''Physical therapy''': To improve joint mobility and muscle strength.
* '''Orthopedic interventions''': Such as braces or surgery to correct joint contractures or spinal deformities.
* '''Regular monitoring''': To assess and manage any complications, such as scoliosis or joint problems.


==Prognosis==
==Prognosis==
Life expectancy may be affected by the disease symptoms present but it is not usually shortened for those with this disease.<ref name=":2" />
The prognosis for individuals with congenital contractural arachnodactyly varies depending on the severity of the condition and the presence of any complications. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing medical care and support.
 
==See also==
*[[Congenital contractural arachnodactyly in cattle]]
 
==References==
{{reflist}}
 
== External links ==
{{Medical resources
| DiseasesDB      = 29326
| ICD10          = Q87.8
| ICD9            =
| ICDO            =
| OMIM            = 121050
| MedlinePlus    =
| eMedicineSubj  =
| eMedicineTopic  =
| MeshID          = C536211
| GARDNum        = 5899
| GARDName        = congenital-contractural-arachnodactyly
| GeneReviewsNBK  = NBK1386
| GeneReviewsName = Congenital Contractural Arachnodactyly
| Orphanet        = 115
}}


{{Systemic connective tissue disorders}}
==Related pages==
{{Cytoskeletal defects}}
* [[Marfan syndrome]]
* [[Connective tissue disorder]]
* [[Genetic disorder]]


{{DEFAULTSORT:Beals Syndrome}}
[[Category:Genetic disorders]]
[[Category:Cytoskeletal defects]]
[[Category:Connective tissue diseases]]
[[Category:Systemic connective tissue disorders]]
{{dictionary-stub1}}

Revision as of 19:18, 22 March 2025

Congenital contractural arachnodactyly (CCA), also known as Beals syndrome, is a rare genetic disorder that affects the connective tissue in the body. It is characterized by arachnodactyly, which refers to abnormally long and slender fingers and toes, and contractures, which are permanent shortening of muscles or tendons around joints. This condition is similar to Marfan syndrome, but it has distinct features and is caused by mutations in a different gene.

Genetics

Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene, which provides instructions for making a protein called fibrillin-2. Fibrillin-2 is an essential component of the extracellular matrix, which provides structural support to tissues and organs. Mutations in the FBN2 gene lead to the production of an abnormal fibrillin-2 protein, disrupting the normal function of connective tissue.

CCA is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. This means that an affected individual has a 50% chance of passing the mutation to their offspring.

Clinical Features

Individuals with congenital contractural arachnodactyly typically present with a range of clinical features, including:

  • Arachnodactyly: Long, slender fingers and toes.
  • Contractures: Permanent shortening of muscles or tendons, particularly affecting the elbows, knees, and fingers.
  • Kyphoscoliosis: A combination of kyphosis (outward curvature of the spine) and scoliosis (sideways curvature of the spine).
  • Crumpled ears: The outer ear may appear crumpled or folded.
  • Muscle hypoplasia: Underdevelopment of muscles, leading to reduced muscle mass and strength.
  • Joint laxity: Increased flexibility of the joints, which may lead to joint instability.

Diagnosis

The diagnosis of congenital contractural arachnodactyly is based on clinical evaluation, family history, and genetic testing. A healthcare provider may suspect CCA based on the characteristic physical features and may confirm the diagnosis through genetic testing to identify mutations in the FBN2 gene.

Management

There is no cure for congenital contractural arachnodactyly, but management focuses on alleviating symptoms and improving quality of life. Treatment options may include:

  • Physical therapy: To improve joint mobility and muscle strength.
  • Orthopedic interventions: Such as braces or surgery to correct joint contractures or spinal deformities.
  • Regular monitoring: To assess and manage any complications, such as scoliosis or joint problems.

Prognosis

The prognosis for individuals with congenital contractural arachnodactyly varies depending on the severity of the condition and the presence of any complications. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing medical care and support.

Related pages

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