Worth syndrome: Difference between revisions

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{{Infobox medical condition (new)
{{SI}}
{{Infobox medical condition
| name            = Worth syndrome
| name            = Worth syndrome
| synonyms        =
| image          = [[File:Autosomal_dominant_-_en.svg|200px]]
| image          = Autosomal dominant - en.svg
| caption        = Worth syndrome is inherited in an [[autosomal dominant]] pattern.
| alt            =
| synonyms        = [[Osteosclerosis]] with [[osteopetrosis]]
| caption        = Worth syndrome has an autosomal dominant pattern of inheritance.
| specialty      = [[Medical genetics]]
| pronounce      =  
| symptoms        = [[Increased bone density]], [[sclerosis]] of the [[skull]], [[mandible]], and [[long bones]]
| field          =
| onset          = Childhood
| geneReviewsID  =  
| duration        = Lifelong
| symptoms        =  
| causes          = [[Genetic mutation]]
| complications  =
| risks          = Family history of the condition
| onset          =  
| diagnosis      = [[Radiographic imaging]], [[genetic testing]]
| duration        =  
| differential    = [[Osteopetrosis]], [[Pycnodysostosis]], [[Camurati-Engelmann disease]]
| types          =
| treatment      = Symptomatic management
| causes          =  
| prognosis      = Generally good with normal life expectancy
| risks          =  
| frequency      = Rare
| diagnosis      =  
| differential    =  
| prevention      =
| treatment      =  
| medication      =
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
'''Worth syndrome''', also known as '''benign form of Worth hyperostosis corticalis generalisata with torus platinus''', '''autosomal dominant osteosclerosis''', '''autosomal dominant endosteal hyperostosis''' or '''Worth disease''',<ref name=omim>{{OMIM|144750}}</ref><ref name=ddb>{{DiseasesDB|32107}}</ref> is a rare [[autosome|autosomal]] [[dominance (genetics)|dominant]] [[congenital disorder]] that is caused by a mutation in the [[LRP5]] gene.<ref name=wad/> It is characterized by increased [[bone]] density and [[benign]] bony structures on the [[palate]].<ref name=omim/><ref name=wad>{{cite journal  |vauthors=Van Wesenbeeck L, Cleiren E, Gram J, etal |title=Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density |journal=Am. J. Hum. Genet. |volume=72 |issue=3 |pages=763–771 |date=March 2003 |pmid=12579474 |pmc=1180253 |doi=10.1086/368277 |format=Free full text}}</ref><ref name="wrongd">{{cite web|url=http://www.wrongdiagnosis.com/w/worth_syndrome/intro.htm |title=Worth Syndrome |accessdate=September 12, 2010 }}</ref><ref name="med">{{cite web|url=http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx |title=Worth's Syndrome |accessdate=September 12, 2010 |publisher=Medcyclopedia }}</ref>
{{Short description|A genetic disorder characterized by a combination of symptoms including intellectual disability and distinctive facial features.}}
 
== Introduction ==
==Cause and Genetics==
[[Worth syndrome]] is a rare [[genetic disorder]] that is primarily characterized by [[intellectual disability]], distinctive [[facial features]], and [[skeletal abnormalities]]. It 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.
 
==Genetics==
Worth syndrome is caused by a [[mutation]] in the [[LRP5]] gene, located on human [[chromosome]] [[chromosome 11 (human)|11q13.4]].<ref name=wad/><ref>{{OMIM|603506}}</ref> The disorder is inherited in an autosomal dominant fashion.<ref name=omim/> This indicates that the defective gene responsible for a disorder is located on an [[autosome]] (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Worth syndrome is caused by mutations in a specific gene, which is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutated gene to each of their children. The specific gene involved in Worth syndrome has not been definitively identified, but it is known to affect the development of the [[skeletal system]] and [[nervous system]].
 
==Clinical Features==
Individuals with Worth syndrome typically present with a range of clinical features, including:
* '''Intellectual disability''': Varying degrees of intellectual disability are common in individuals with Worth syndrome.
* '''Facial dysmorphism''': Distinctive facial features may include a broad forehead, wide-set eyes, and a flat nasal bridge.
* '''Skeletal abnormalities''': These may include [[osteosclerosis]], which is an abnormal hardening of bone, and other bone malformations.
==Diagnosis==
==Diagnosis==
{{Empty section|date=August 2017}}
The diagnosis of Worth syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the disorder.
==Treatment==
==Management==
{{Empty section|date=August 2017}}
There is no cure for Worth syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include:
 
* '''Educational support''': Special education programs can help individuals with intellectual disabilities achieve their full potential.
==History==
* '''Physical therapy''': To address skeletal abnormalities and improve mobility.
The condition was first reported by [[H. M. Worth]] in 1966. In 1977, two [[physician|doctors]], R.J. Gorlin and L. Glass, distinguished the syndrome from [[van Buchem disease]]. In 1987 a group of [[Spain|Spanish]] doctors pointed out that the condition may not be [[benign]], and may sometimes cause [[nerve]] damage.<ref name=omim/>
* '''Regular monitoring''': Ongoing medical evaluations to monitor the progression of symptoms and manage complications.
 
==Prognosis==
==References==
The prognosis for individuals with Worth syndrome varies depending on the severity of symptoms. With appropriate management and support, many individuals can lead fulfilling lives.
{{Reflist}}
==See also==
== External links ==
* [[Genetic disorder]]
{{Medical resources
* [[Intellectual disability]]
|  DiseasesDB      = 32107
* [[Autosomal dominant]]
|  ICD10          = Q78.2
* [[Skeletal system]]
|  ICD9            =
[[Category:Genetic disorders]]
|  ICDO            =
|  OMIM            = 144750
|  MedlinePlus    =
|  eMedicineSubj  =
|  eMedicineTopic  =
|  MeshID          =
|  GeneReviewsName =
|  Orphanet        = 2790
}}
{{Cell surface receptor deficiencies}}
 
[[Category:Autosomal dominant disorders]]
[[Category:Syndromes]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Congenital disorders]]
{{stb}}

Latest revision as of 17:52, 12 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
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Worth syndrome
Synonyms Osteosclerosis with osteopetrosis
Pronounce N/A
Specialty Medical genetics
Symptoms Increased bone density, sclerosis of the skull, mandible, and long bones
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history of the condition
Diagnosis Radiographic imaging, genetic testing
Differential diagnosis Osteopetrosis, Pycnodysostosis, Camurati-Engelmann disease
Prevention N/A
Treatment Symptomatic management
Medication N/A
Prognosis Generally good with normal life expectancy
Frequency Rare
Deaths N/A


A genetic disorder characterized by a combination of symptoms including intellectual disability and distinctive facial features.


Introduction[edit]

Worth syndrome is a rare genetic disorder that is primarily characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. It 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.

Genetics[edit]

Worth syndrome is caused by mutations in a specific gene, which is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutated gene to each of their children. The specific gene involved in Worth syndrome has not been definitively identified, but it is known to affect the development of the skeletal system and nervous system.

Clinical Features[edit]

Individuals with Worth syndrome typically present with a range of clinical features, including:

  • Intellectual disability: Varying degrees of intellectual disability are common in individuals with Worth syndrome.
  • Facial dysmorphism: Distinctive facial features may include a broad forehead, wide-set eyes, and a flat nasal bridge.
  • Skeletal abnormalities: These may include osteosclerosis, which is an abnormal hardening of bone, and other bone malformations.

Diagnosis[edit]

The diagnosis of Worth syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the disorder.

Management[edit]

There is no cure for Worth syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include:

  • Educational support: Special education programs can help individuals with intellectual disabilities achieve their full potential.
  • Physical therapy: To address skeletal abnormalities and improve mobility.
  • Regular monitoring: Ongoing medical evaluations to monitor the progression of symptoms and manage complications.

Prognosis[edit]

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

See also[edit]

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