MDP syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = MDP syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| alt = | |||
| caption = MDP syndrome is inherited in an [[autosomal dominant]] manner | |||
| synonyms = Mandibular dysplasia with deafness and progeroid features | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Deafness]], [[mandibular hypoplasia]], [[lipodystrophy]], [[progeroid features]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Mutations in the [[POLD1]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], clinical evaluation | |||
| differential = | |||
| prevention = | |||
| treatment = Symptomatic management | |||
| medication = | |||
| prognosis = | |||
| frequency = Extremely rare | |||
| deaths = | |||
}} | |||
{{DISPLAYTITLE:MDP Syndrome}} | {{DISPLAYTITLE:MDP Syndrome}} | ||
== Introduction == | |||
'''MDP syndrome''' is a rare genetic disorder characterized by a combination of [[lipodystrophy]], [[deafness]], and [[progeroid]] features. The syndrome is named after the main symptoms: Mandibular hypoplasia, Deafness, and Progeroid features. It is an autosomal dominant condition, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. | '''MDP syndrome''' is a rare genetic disorder characterized by a combination of [[lipodystrophy]], [[deafness]], and [[progeroid]] features. The syndrome is named after the main symptoms: Mandibular hypoplasia, Deafness, and Progeroid features. It is an autosomal dominant condition, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with MDP syndrome typically present with a distinct set of clinical features: | Individuals with MDP syndrome typically present with a distinct set of clinical features: | ||
* '''Mandibular hypoplasia''': Underdevelopment of the [[mandible]] (lower jaw), leading to facial abnormalities. | * '''Mandibular hypoplasia''': Underdevelopment of the [[mandible]] (lower jaw), leading to facial abnormalities. | ||
* '''Deafness''': Sensorineural [[hearing loss]] is common in affected individuals. | * '''Deafness''': Sensorineural [[hearing loss]] is common in affected individuals. | ||
* '''Progeroid features''': These include [[premature aging]], [[skin atrophy]], and loss of subcutaneous fat. | * '''Progeroid features''': These include [[premature aging]], [[skin atrophy]], and loss of subcutaneous fat. | ||
* '''Lipodystrophy''': Abnormal distribution of body fat, often leading to a lack of fat in the face and limbs. | * '''Lipodystrophy''': Abnormal distribution of body fat, often leading to a lack of fat in the face and limbs. | ||
== Genetics == | == Genetics == | ||
MDP syndrome is caused by mutations in the [[POLD1]] gene, which encodes the catalytic subunit of DNA polymerase delta. This enzyme is crucial for DNA replication and repair. The mutations lead to a malfunction in DNA replication, contributing to the symptoms of the syndrome. | MDP syndrome is caused by mutations in the [[POLD1]] gene, which encodes the catalytic subunit of DNA polymerase delta. This enzyme is crucial for DNA replication and repair. The mutations lead to a malfunction in DNA replication, contributing to the symptoms of the syndrome. | ||
The condition follows an [[autosomal dominant]] pattern of inheritance, as depicted in the diagram. This means that an affected individual has a 50% chance of passing the mutated gene to each offspring. | The condition follows an [[autosomal dominant]] pattern of inheritance, as depicted in the diagram. This means that an affected individual has a 50% chance of passing the mutated gene to each offspring. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of MDP syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic features such as mandibular hypoplasia, deafness, and progeroid features can prompt genetic testing to confirm the diagnosis. | Diagnosis of MDP syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic features such as mandibular hypoplasia, deafness, and progeroid features can prompt genetic testing to confirm the diagnosis. | ||
== Management == | == Management == | ||
There is currently no cure for MDP syndrome, and treatment is primarily supportive. Management strategies may include: | There is currently no cure for MDP syndrome, and treatment is primarily supportive. Management strategies may include: | ||
* '''Hearing aids''' or cochlear implants for hearing loss. | * '''Hearing aids''' or cochlear implants for hearing loss. | ||
* '''Cosmetic surgery''' to address facial abnormalities. | * '''Cosmetic surgery''' to address facial abnormalities. | ||
* '''Nutritional support''' to manage lipodystrophy and maintain healthy body weight. | * '''Nutritional support''' to manage lipodystrophy and maintain healthy body weight. | ||
== See also == | |||
== | |||
* [[Lipodystrophy]] | * [[Lipodystrophy]] | ||
* [[Progeroid syndromes]] | * [[Progeroid syndromes]] | ||
* [[Autosomal dominant inheritance]] | * [[Autosomal dominant inheritance]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Revision as of 04:36, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| MDP syndrome | |
|---|---|
| |
| Synonyms | Mandibular dysplasia with deafness and progeroid features |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Deafness, mandibular hypoplasia, lipodystrophy, progeroid features |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the POLD1 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic management |
| Medication | |
| Prognosis | |
| Frequency | Extremely rare |
| Deaths | |
Introduction
MDP syndrome is a rare genetic disorder characterized by a combination of lipodystrophy, deafness, and progeroid features. The syndrome is named after the main symptoms: Mandibular hypoplasia, Deafness, and Progeroid features. It is an autosomal dominant condition, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.
Clinical Features
Individuals with MDP syndrome typically present with a distinct set of clinical features:
- Mandibular hypoplasia: Underdevelopment of the mandible (lower jaw), leading to facial abnormalities.
- Deafness: Sensorineural hearing loss is common in affected individuals.
- Progeroid features: These include premature aging, skin atrophy, and loss of subcutaneous fat.
- Lipodystrophy: Abnormal distribution of body fat, often leading to a lack of fat in the face and limbs.
Genetics
MDP syndrome is caused by mutations in the POLD1 gene, which encodes the catalytic subunit of DNA polymerase delta. This enzyme is crucial for DNA replication and repair. The mutations lead to a malfunction in DNA replication, contributing to the symptoms of the syndrome. The condition follows an autosomal dominant pattern of inheritance, as depicted in the diagram. This means that an affected individual has a 50% chance of passing the mutated gene to each offspring.
Diagnosis
Diagnosis of MDP syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic features such as mandibular hypoplasia, deafness, and progeroid features can prompt genetic testing to confirm the diagnosis.
Management
There is currently no cure for MDP syndrome, and treatment is primarily supportive. Management strategies may include:
- Hearing aids or cochlear implants for hearing loss.
- Cosmetic surgery to address facial abnormalities.
- Nutritional support to manage lipodystrophy and maintain healthy body weight.
