Robinow syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
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[[File:Robinowsyndrome.jpg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Robinow syndrome | |||
| image = [[File:Robinowsyndrome.jpg]] | |||
| caption = Clinical features of Robinow syndrome | |||
| synonyms = Fetal face syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Short stature]], [[limb shortening]], [[genital hypoplasia]], [[craniofacial dysmorphism]] | |||
| onset = Birth | |||
| duration = Lifelong | |||
| types = Autosomal dominant, autosomal recessive | |||
| causes = Genetic mutations in [[ROR2]] or [[WNT5A]] genes | |||
| risks = Family history | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Achondroplasia]], [[Ellis-van Creveld syndrome]] | |||
| prevention = Genetic counseling | |||
| treatment = Symptomatic management, [[orthopedic surgery]], [[hormone therapy]] | |||
| medication = | |||
| prognosis = Variable, generally normal life expectancy | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Robinow syndrome''' is a rare genetic disorder characterized by distinctive facial features, limb shortening, and genital abnormalities. It was first described by the German geneticist Meinhard Robinow in 1969. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with Robinow syndrome typically present with: | Individuals with Robinow syndrome typically present with: | ||
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* [[Vertebral anomalies]]: Abnormalities in the spine, such as hemivertebrae or scoliosis. | * [[Vertebral anomalies]]: Abnormalities in the spine, such as hemivertebrae or scoliosis. | ||
* [[Growth retardation]]: Short stature is common in individuals with Robinow syndrome. | * [[Growth retardation]]: Short stature is common in individuals with Robinow syndrome. | ||
== Genetics == | == Genetics == | ||
Robinow syndrome can be caused by mutations in several genes, including [[ROR2]] and [[WNT5A]]. The autosomal dominant form is often associated with mutations in the WNT5A gene, while the autosomal recessive form is typically linked to mutations in the ROR2 gene. | Robinow syndrome can be caused by mutations in several genes, including [[ROR2]] and [[WNT5A]]. The autosomal dominant form is often associated with mutations in the WNT5A gene, while the autosomal recessive form is typically linked to mutations in the ROR2 gene. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Robinow syndrome is primarily based on clinical features and can be confirmed through genetic testing. Prenatal diagnosis is possible if there is a known family history of the disorder. | The diagnosis of Robinow syndrome is primarily based on clinical features and can be confirmed through genetic testing. Prenatal diagnosis is possible if there is a known family history of the disorder. | ||
== Management == | == Management == | ||
There is no cure for Robinow syndrome, and treatment is symptomatic and supportive. Management may include: | There is no cure for Robinow syndrome, and treatment is symptomatic and supportive. Management may include: | ||
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* [[Physical therapy]]: To improve mobility and muscle strength. | * [[Physical therapy]]: To improve mobility and muscle strength. | ||
* [[Genetic counseling]]: For affected families to understand the inheritance pattern and risks for future pregnancies. | * [[Genetic counseling]]: For affected families to understand the inheritance pattern and risks for future pregnancies. | ||
== Epidemiology == | == Epidemiology == | ||
Robinow syndrome is extremely rare, with an estimated prevalence of less than 1 in 500,000 individuals. It affects both males and females equally. | Robinow syndrome is extremely rare, with an estimated prevalence of less than 1 in 500,000 individuals. It affects both males and females equally. | ||
== See Also == | == See Also == | ||
* [[Dwarfism]] | * [[Dwarfism]] | ||
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* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
== See also == | |||
== | |||
* [[ROR2]] | * [[ROR2]] | ||
* [[WNT5A]] | * [[WNT5A]] | ||
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* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Skeletal disorders]] | [[Category:Skeletal disorders]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 18:23, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Robinow syndrome | |
|---|---|
| File:Robinowsyndrome.jpg | |
| Synonyms | Fetal face syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Short stature, limb shortening, genital hypoplasia, craniofacial dysmorphism |
| Complications | N/A |
| Onset | Birth |
| Duration | Lifelong |
| Types | Autosomal dominant, autosomal recessive |
| Causes | Genetic mutations in ROR2 or WNT5A genes |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Achondroplasia, Ellis-van Creveld syndrome |
| Prevention | Genetic counseling |
| Treatment | Symptomatic management, orthopedic surgery, hormone therapy |
| Medication | |
| Prognosis | Variable, generally normal life expectancy |
| Frequency | Rare |
| Deaths | |
Robinow syndrome is a rare genetic disorder characterized by distinctive facial features, limb shortening, and genital abnormalities. It was first described by the German geneticist Meinhard Robinow in 1969. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner.
Clinical Features[edit]
Individuals with Robinow syndrome typically present with:
- Facial dysmorphism: This includes a broad forehead, hypertelorism (wide-set eyes), a short nose with an upturned tip, and a wide mouth.
- Limb shortening: Shortening of the arms and legs, particularly the forearms and lower legs.
- Genital abnormalities: Males may have micropenis and undescended testes, while females may have underdeveloped genitalia.
- Vertebral anomalies: Abnormalities in the spine, such as hemivertebrae or scoliosis.
- Growth retardation: Short stature is common in individuals with Robinow syndrome.
Genetics[edit]
Robinow syndrome can be caused by mutations in several genes, including ROR2 and WNT5A. The autosomal dominant form is often associated with mutations in the WNT5A gene, while the autosomal recessive form is typically linked to mutations in the ROR2 gene.
Diagnosis[edit]
The diagnosis of Robinow syndrome is primarily based on clinical features and can be confirmed through genetic testing. Prenatal diagnosis is possible if there is a known family history of the disorder.
Management[edit]
There is no cure for Robinow syndrome, and treatment is symptomatic and supportive. Management may include:
- Orthopedic surgery: To address limb and spine abnormalities.
- Hormone therapy: For genital abnormalities.
- Physical therapy: To improve mobility and muscle strength.
- Genetic counseling: For affected families to understand the inheritance pattern and risks for future pregnancies.
Epidemiology[edit]
Robinow syndrome is extremely rare, with an estimated prevalence of less than 1 in 500,000 individuals. It affects both males and females equally.
See Also[edit]
References[edit]
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External Links[edit]
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See also[edit]
