MOMO syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
No edit summary Tag: Manual revert |
CSV import |
||
| Line 1: | Line 1: | ||
{{Infobox medical condition | |||
| name = MOMO syndrome | |||
| synonyms = | |||
| pronunciation = | |||
| image = | |||
| alt = | |||
| caption = | |||
| width = | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Macrosomia]], [[obesity]], [[macrocephaly]], [[ocular abnormalities]] | |||
| complications = | |||
| onset = [[Congenital]] | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Symptomatic treatment]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Very rare | |||
| deaths = | |||
}} | |||
'''MOMO syndrome''' is a rare [[genetic disorder]] characterized by four primary features: [[Macrosomia]], [[Obesity]], [[Macrocephaly]], and [[Ocular abnormalities]]. The syndrome was first described in the medical literature in 1993 by Dr. C. Le Merrer and colleagues. The name MOMO is an acronym derived from the main symptoms of the disorder. | '''MOMO syndrome''' is a rare [[genetic disorder]] characterized by four primary features: [[Macrosomia]], [[Obesity]], [[Macrocephaly]], and [[Ocular abnormalities]]. The syndrome was first described in the medical literature in 1993 by Dr. C. Le Merrer and colleagues. The name MOMO is an acronym derived from the main symptoms of the disorder. | ||
== Symptoms and Characteristics == | == Symptoms and Characteristics == | ||
Individuals with MOMO syndrome typically present with the following features: | Individuals with MOMO syndrome typically present with the following features: | ||
| Line 7: | Line 32: | ||
* '''Macrocephaly''': An unusually large head circumference. | * '''Macrocephaly''': An unusually large head circumference. | ||
* '''Ocular abnormalities''': These can include a range of eye-related issues, such as [[strabismus]], [[myopia]], and other visual impairments. | * '''Ocular abnormalities''': These can include a range of eye-related issues, such as [[strabismus]], [[myopia]], and other visual impairments. | ||
Additional features may include developmental delays, intellectual disabilities, and distinctive facial features such as a prominent forehead and a broad nasal bridge. | Additional features may include developmental delays, intellectual disabilities, and distinctive facial features such as a prominent forehead and a broad nasal bridge. | ||
== Genetics == | == Genetics == | ||
MOMO syndrome is believed to follow an [[autosomal recessive]] inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in MOMO syndrome have not yet been identified. | MOMO syndrome is believed to follow an [[autosomal recessive]] inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in MOMO syndrome have not yet been identified. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of MOMO syndrome is primarily based on clinical evaluation and the presence of characteristic symptoms. Genetic testing may be used to support the diagnosis, although the exact genetic cause remains unknown. | Diagnosis of MOMO syndrome is primarily based on clinical evaluation and the presence of characteristic symptoms. Genetic testing may be used to support the diagnosis, although the exact genetic cause remains unknown. | ||
== Management and Treatment == | == Management and Treatment == | ||
There is no cure for MOMO syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary approach, including: | There is no cure for MOMO syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary approach, including: | ||
| Line 22: | Line 43: | ||
* [[Ophthalmologist]]s for addressing ocular abnormalities. | * [[Ophthalmologist]]s for addressing ocular abnormalities. | ||
* [[Developmental pediatrician]]s and [[therapist]]s for developmental support and interventions. | * [[Developmental pediatrician]]s and [[therapist]]s for developmental support and interventions. | ||
== Epidemiology == | == Epidemiology == | ||
MOMO syndrome is extremely rare, with only a few cases reported in the medical literature. Due to its rarity, the exact prevalence is unknown. | MOMO syndrome is extremely rare, with only a few cases reported in the medical literature. Due to its rarity, the exact prevalence is unknown. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
| Line 33: | Line 52: | ||
* [[Ocular abnormalities]] | * [[Ocular abnormalities]] | ||
* [[Autosomal recessive]] | * [[Autosomal recessive]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:52, 4 April 2025
| MOMO syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Macrosomia, obesity, macrocephaly, ocular abnormalities |
| Complications | |
| Onset | Congenital |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | Very rare |
| Deaths | |
MOMO syndrome is a rare genetic disorder characterized by four primary features: Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities. The syndrome was first described in the medical literature in 1993 by Dr. C. Le Merrer and colleagues. The name MOMO is an acronym derived from the main symptoms of the disorder.
Symptoms and Characteristics[edit]
Individuals with MOMO syndrome typically present with the following features:
- Macrosomia: This refers to an abnormally large body size and is often noticeable at birth.
- Obesity: Excessive body fat accumulation, which can develop in early childhood.
- Macrocephaly: An unusually large head circumference.
- Ocular abnormalities: These can include a range of eye-related issues, such as strabismus, myopia, and other visual impairments.
Additional features may include developmental delays, intellectual disabilities, and distinctive facial features such as a prominent forehead and a broad nasal bridge.
Genetics[edit]
MOMO syndrome is believed to follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in MOMO syndrome have not yet been identified.
Diagnosis[edit]
Diagnosis of MOMO syndrome is primarily based on clinical evaluation and the presence of characteristic symptoms. Genetic testing may be used to support the diagnosis, although the exact genetic cause remains unknown.
Management and Treatment[edit]
There is no cure for MOMO syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary approach, including:
- Pediatricians for overall health monitoring.
- Endocrinologists for managing obesity and related metabolic issues.
- Ophthalmologists for addressing ocular abnormalities.
- Developmental pediatricians and therapists for developmental support and interventions.
Epidemiology[edit]
MOMO syndrome is extremely rare, with only a few cases reported in the medical literature. Due to its rarity, the exact prevalence is unknown.
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
-
