Marfanoid–progeroid–lipodystrophy syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Marfanoid–progeroid–lipodystrophy syndrome | |||
| image = [[File:Protein_FBN1_PDB_1apj.png|250px]] | |||
| caption = Fibrillin-1 protein structure | |||
| synonyms = [[MPL syndrome]] | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Marfanoid habitus]], [[progeroid features]], [[lipodystrophy]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Cardiovascular complications]], [[metabolic disorders]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Marfan syndrome]], [[progeria]], [[lipodystrophy syndromes]] | |||
| treatment = [[Symptomatic treatment]], [[multidisciplinary care]] | |||
| prognosis = [[Variable]], depends on [[complications]] | |||
| frequency = [[Rare]] | |||
}} | |||
'''Marfanoid–progeroid–lipodystrophy syndrome''' (MPLS) is a rare genetic disorder characterized by features of Marfan syndrome, progeroid syndrome, and lipodystrophy. | '''Marfanoid–progeroid–lipodystrophy syndrome''' (MPLS) is a rare genetic disorder characterized by features of Marfan syndrome, progeroid syndrome, and lipodystrophy. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of MPLS can vary greatly from person to person. However, common symptoms include: | The symptoms of MPLS can vary greatly from person to person. However, common symptoms include: | ||
* [[Marfanoid habitus]]: Tall stature, long limbs, and thin body type, similar to those seen in [[Marfan syndrome]]. | * [[Marfanoid habitus]]: Tall stature, long limbs, and thin body type, similar to those seen in [[Marfan syndrome]]. | ||
* [[Progeroid features]]: Premature aging, including skin thinning and wrinkling, hair loss, and joint stiffness. | * [[Progeroid features]]: Premature aging, including skin thinning and wrinkling, hair loss, and joint stiffness. | ||
* [[Lipodystrophy]]: Loss of body fat, particularly in the face, arms, and legs. | * [[Lipodystrophy]]: Loss of body fat, particularly in the face, arms, and legs. | ||
== Causes == | == Causes == | ||
MPLS is caused by mutations in the [[FBN1]] gene. This gene provides instructions for making a protein called fibrillin-1, which is an important component of connective tissues. Mutations in the FBN1 gene disrupt the normal function of fibrillin-1, leading to the various symptoms of MPLS. | MPLS is caused by mutations in the [[FBN1]] gene. This gene provides instructions for making a protein called fibrillin-1, which is an important component of connective tissues. Mutations in the FBN1 gene disrupt the normal function of fibrillin-1, leading to the various symptoms of MPLS. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of MPLS is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the FBN1 gene. | Diagnosis of MPLS is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the FBN1 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for MPLS. Treatment is focused on managing symptoms and may include physical therapy for joint stiffness, medication for pain, and cosmetic procedures for lipodystrophy. | There is currently no cure for MPLS. Treatment is focused on managing symptoms and may include physical therapy for joint stiffness, medication for pain, and cosmetic procedures for lipodystrophy. | ||
== See Also == | == See Also == | ||
* [[Marfan syndrome]] | * [[Marfan syndrome]] | ||
* [[Progeroid syndromes]] | * [[Progeroid syndromes]] | ||
* [[Lipodystrophy]] | * [[Lipodystrophy]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:35, 6 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
| Marfanoid–progeroid–lipodystrophy syndrome | |
|---|---|
| |
| Synonyms | MPL syndrome |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Marfanoid habitus, progeroid features, lipodystrophy |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Cardiovascular complications, metabolic disorders |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Marfan syndrome, progeria, lipodystrophy syndromes |
| Prevention | N/A |
| Treatment | Symptomatic treatment, multidisciplinary care |
| Medication | N/A |
| Prognosis | Variable, depends on complications |
| Frequency | Rare |
| Deaths | N/A |
Marfanoid–progeroid–lipodystrophy syndrome (MPLS) is a rare genetic disorder characterized by features of Marfan syndrome, progeroid syndrome, and lipodystrophy.
Symptoms and Signs[edit]
The symptoms of MPLS can vary greatly from person to person. However, common symptoms include:
- Marfanoid habitus: Tall stature, long limbs, and thin body type, similar to those seen in Marfan syndrome.
- Progeroid features: Premature aging, including skin thinning and wrinkling, hair loss, and joint stiffness.
- Lipodystrophy: Loss of body fat, particularly in the face, arms, and legs.
Causes[edit]
MPLS is caused by mutations in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is an important component of connective tissues. Mutations in the FBN1 gene disrupt the normal function of fibrillin-1, leading to the various symptoms of MPLS.
Diagnosis[edit]
Diagnosis of MPLS is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the FBN1 gene.
Treatment[edit]
There is currently no cure for MPLS. Treatment is focused on managing symptoms and may include physical therapy for joint stiffness, medication for pain, and cosmetic procedures for lipodystrophy.
See Also[edit]
References[edit]
<references />
