Omodysplasia 2: Difference between revisions

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{{DISPLAYTITLE:Omodysplasia 2}}
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| caption        = Omodysplasia 2 is inherited in an autosomal dominant manner.
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'''Omodysplasia type 2''' is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system.
== Omodysplasia 2 ==


==Clinical features==
[[File:Autosomal dominant - en.svg|thumb|right|Diagram of autosomal dominant inheritance pattern.]]


These can be grouped under those evident in the skull/face, the long bones and the genitourinary system
'''Omodysplasia 2''' is a rare [[genetic disorder]] characterized by distinctive [[skeletal dysplasia]] affecting the [[limbs]] and [[facial features]]. It is inherited in an [[autosomal dominant]] pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.


*Skull
== Clinical Features ==
**Anteverted nostrils
**Bifid nasal tip
**Depressed nasal bridge
**Fontal bossing
**Long philtrum
**Low set ears


*Long bones
Individuals with Omodysplasia 2 typically present with:
**Short first metacarpal
**Short humerus


*Genitourinary
* Shortening of the [[humerus]] (upper arm bone)
**Genitourinary hypoplasia
* Short stature
==Genetics==
* Distinctive facial features, which may include a prominent forehead, depressed nasal bridge, and a small chin
* Possible [[joint laxity]]


This condition is inherited in an autosomal dominant fashion.
== Genetics ==


Mutations in the Frizzled Class Receptor 2 ([[FZD2]]) gene have been associated with this condition.<ref name=Nagasaki2018>Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A (2018) Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. Am J Med Genet A doi: 10.1002/ajmg.a.38623 </ref>
Omodysplasia 2 is caused by mutations in specific genes that are involved in the development and growth of bones and connective tissues. The exact genetic mutations responsible for this condition are still under investigation, but it is known to follow an autosomal dominant inheritance pattern.


==Diagnosis==
== Diagnosis ==
===Differential diagnosis===


[[Robinow syndrome]]
Diagnosis of Omodysplasia 2 is based on clinical evaluation, family history, and may be confirmed by genetic testing. Radiographic imaging can reveal characteristic skeletal abnormalities that aid in diagnosis.


==Treatment==
== Management ==


There is no currently known treatment for this condition.
There is no cure for Omodysplasia 2, and treatment is primarily supportive. Management may include:
==History==


This condition was first described by Maroteaux ''et al'' in 1989.<ref name=Maroteaux1989>Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375</ref>
* Physical therapy to improve mobility and strength
* Orthopedic interventions to address skeletal deformities
* Regular monitoring of growth and development


==References==
== Prognosis ==
{{reflist}}
 
== External links ==
The prognosis for individuals with Omodysplasia 2 varies depending on the severity of the symptoms. With appropriate management, individuals can lead relatively normal lives, although they may face challenges related to their physical stature and skeletal abnormalities.
{{Medical resources
 
|  DiseasesDB    =
== Related Pages ==
|  ICD10          =  
 
|  ICD9          =
* [[Skeletal dysplasia]]
|  ICDO          =  
* [[Autosomal dominant disorder]]
|  OMIM          = 164745
* [[Genetic disorder]]
|  MedlinePlus    =
 
|  eMedicineSubj  =
[[Category:Genetic disorders]]
|  eMedicineTopic =
[[Category:Skeletal disorders]]
|  MeshID        = 
|  GeneReviewsNBK = 
|  GeneReviewsName = 
|  Orphanet      = 93328
}}
[[Category:Rare diseases]]
{{dictionary-stub1}}

Revision as of 05:27, 16 February 2025


Omodysplasia 2

Diagram of autosomal dominant inheritance pattern.

Omodysplasia 2 is a rare genetic disorder characterized by distinctive skeletal dysplasia affecting the limbs and facial features. It is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with Omodysplasia 2 typically present with:

  • Shortening of the humerus (upper arm bone)
  • Short stature
  • Distinctive facial features, which may include a prominent forehead, depressed nasal bridge, and a small chin
  • Possible joint laxity

Genetics

Omodysplasia 2 is caused by mutations in specific genes that are involved in the development and growth of bones and connective tissues. The exact genetic mutations responsible for this condition are still under investigation, but it is known to follow an autosomal dominant inheritance pattern.

Diagnosis

Diagnosis of Omodysplasia 2 is based on clinical evaluation, family history, and may be confirmed by genetic testing. Radiographic imaging can reveal characteristic skeletal abnormalities that aid in diagnosis.

Management

There is no cure for Omodysplasia 2, and treatment is primarily supportive. Management may include:

  • Physical therapy to improve mobility and strength
  • Orthopedic interventions to address skeletal deformities
  • Regular monitoring of growth and development

Prognosis

The prognosis for individuals with Omodysplasia 2 varies depending on the severity of the symptoms. With appropriate management, individuals can lead relatively normal lives, although they may face challenges related to their physical stature and skeletal abnormalities.

Related Pages

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