MORM syndrome: Difference between revisions
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[[File:Chromosome_9_Diagram.png| | {{SI}} | ||
{{Infobox medical condition | |||
| name = MORM syndrome | |||
| image = [[File:Chromosome_9_Diagram.png|250px]] | |||
| caption = MORM syndrome is associated with a mutation on [[chromosome 9]]. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Mental retardation]], [[obesity]], [[retinal dystrophy]], [[micropenis]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = | |||
| medication = | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''MORM syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[mental retardation]], [[obesity]], [[retinal dystrophy]], and [[micropenis]]. The name MORM is an acronym derived from these primary features. This syndrome is inherited in an [[autosomal recessive]] manner. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with MORM syndrome typically present with the following clinical features: | Individuals with MORM syndrome typically present with the following clinical features: | ||
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* **Retinal Dystrophy**: Progressive degeneration of the [[retina]], leading to vision impairment or blindness. | * **Retinal Dystrophy**: Progressive degeneration of the [[retina]], leading to vision impairment or blindness. | ||
* **Micropenis**: An abnormally small [[penis]]. | * **Micropenis**: An abnormally small [[penis]]. | ||
== Genetics == | == Genetics == | ||
MORM syndrome is caused by mutations in a specific gene, which is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutated gene, typically do not show symptoms. | MORM syndrome is caused by mutations in a specific gene, which is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutated gene, typically do not show symptoms. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of MORM syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with genetic confirmation, is essential for a definitive diagnosis. | The diagnosis of MORM syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with genetic confirmation, is essential for a definitive diagnosis. | ||
== Management == | == Management == | ||
There is currently no cure for MORM syndrome. Management focuses on addressing the individual symptoms and may include: | There is currently no cure for MORM syndrome. Management focuses on addressing the individual symptoms and may include: | ||
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* Regular ophthalmologic evaluations to monitor and manage retinal dystrophy. | * Regular ophthalmologic evaluations to monitor and manage retinal dystrophy. | ||
* Hormonal treatments or surgical options for micropenis, if necessary. | * Hormonal treatments or surgical options for micropenis, if necessary. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with MORM syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early intervention and supportive care can improve the quality of life for affected individuals. | The prognosis for individuals with MORM syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early intervention and supportive care can improve the quality of life for affected individuals. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Retinal dystrophy]] | * [[Retinal dystrophy]] | ||
* [[Micropenis]] | * [[Micropenis]] | ||
== See also == | |||
== | |||
* [[Genetic counseling]] | * [[Genetic counseling]] | ||
* [[Inherited metabolic disorders]] | * [[Inherited metabolic disorders]] | ||
* [[Developmental disabilities]] | * [[Developmental disabilities]] | ||
* [[Endocrine disorders]] | * [[Endocrine disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Developmental disabilities]] | [[Category:Developmental disabilities]] | ||
[[Category:Endocrine disorders]] | [[Category:Endocrine disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Revision as of 04:16, 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
| MORM syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Mental retardation, obesity, retinal dystrophy, micropenis |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
MORM syndrome is a rare genetic disorder characterized by a combination of mental retardation, obesity, retinal dystrophy, and micropenis. The name MORM is an acronym derived from these primary features. This syndrome is inherited in an autosomal recessive manner.
Clinical Features
Individuals with MORM syndrome typically present with the following clinical features:
- **Mental Retardation**: A significant impairment in cognitive function and adaptive behaviors.
- **Obesity**: Excessive body weight, often beginning in childhood.
- **Retinal Dystrophy**: Progressive degeneration of the retina, leading to vision impairment or blindness.
- **Micropenis**: An abnormally small penis.
Genetics
MORM syndrome is caused by mutations in a specific gene, which is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutated gene, typically do not show symptoms.
Diagnosis
The diagnosis of MORM syndrome is based on clinical evaluation, family history, and genetic testing. The presence of the characteristic features, along with genetic confirmation, is essential for a definitive diagnosis.
Management
There is currently no cure for MORM syndrome. Management focuses on addressing the individual symptoms and may include:
- Special education programs and therapies to support cognitive development.
- Nutritional and lifestyle interventions to manage obesity.
- Regular ophthalmologic evaluations to monitor and manage retinal dystrophy.
- Hormonal treatments or surgical options for micropenis, if necessary.
Prognosis
The prognosis for individuals with MORM syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early intervention and supportive care can improve the quality of life for affected individuals.
See Also
See also
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