Du Pan syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Du Pan syndrome | |||
| image = [[File:DuPanSyndrome2.jpg|250px]] | |||
| caption = Radiographic image showing features of Du Pan syndrome | |||
| synonyms = Brachymesomelia and anonychia | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = Shortened limbs, absence of nails | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[Genetic testing]] | |||
| differential = [[Nail-patella syndrome]], [[Aplasia cutis congenita]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[Physical therapy]] | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
[[File:DuPanSyndrome1.JPG|Du Pan Syndrome|thumb|left]] | |||
[[File:GDF5_and_BMPR_Pathway_(Du_Pan_Syndrome).png|GDF5 and BMPR Pathway (Du Pan Syndrome)|left|thumb]] | |||
'''Du Pan syndrome''' is a rare congenital condition characterized by the combination of [[fibular hemimelia]], where part of the [[fibula]] (one of the two bones in the lower leg) is missing, and [[ectrodactyly]], the absence of one or more central digits on the hands and/or feet. This syndrome represents a significant challenge in terms of medical management and rehabilitation, aiming to improve the quality of life for those affected. | '''Du Pan syndrome''' is a rare congenital condition characterized by the combination of [[fibular hemimelia]], where part of the [[fibula]] (one of the two bones in the lower leg) is missing, and [[ectrodactyly]], the absence of one or more central digits on the hands and/or feet. This syndrome represents a significant challenge in terms of medical management and rehabilitation, aiming to improve the quality of life for those affected. | ||
==Etiology== | ==Etiology== | ||
The exact cause of Du Pan syndrome remains unknown. However, it is believed to be a genetic disorder that follows an autosomal recessive inheritance pattern. This means that a child must inherit one copy of the defective gene from each parent to be affected. Research is ongoing to identify the specific genes involved. | The exact cause of Du Pan syndrome remains unknown. However, it is believed to be a genetic disorder that follows an autosomal recessive inheritance pattern. This means that a child must inherit one copy of the defective gene from each parent to be affected. Research is ongoing to identify the specific genes involved. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with Du Pan syndrome present with a range of physical anomalies that vary in severity. The hallmark features include: | Individuals with Du Pan syndrome present with a range of physical anomalies that vary in severity. The hallmark features include: | ||
* '''Fibular Hemimelia:''' This is the partial or complete absence of the fibula. It is one of the most common congenital lower limb deficiencies and can lead to significant limb length discrepancy and foot deformities. | * '''Fibular Hemimelia:''' This is the partial or complete absence of the fibula. It is one of the most common congenital lower limb deficiencies and can lead to significant limb length discrepancy and foot deformities. | ||
* '''Ectrodactyly:''' Also known as split-hand/split-foot malformation, this involves the absence of one or more central digits on the hands and/or feet, which can significantly affect their function and appearance. | * '''Ectrodactyly:''' Also known as split-hand/split-foot malformation, this involves the absence of one or more central digits on the hands and/or feet, which can significantly affect their function and appearance. | ||
* Additional anomalies may include tibial torsion, foot deformities such as [[clubfoot]], and, in some cases, issues with other organs or systems. | * Additional anomalies may include tibial torsion, foot deformities such as [[clubfoot]], and, in some cases, issues with other organs or systems. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Du Pan syndrome is primarily based on clinical examination and the characteristic physical findings. Prenatal ultrasound may detect limb abnormalities suggestive of the syndrome. After birth, radiographic imaging is crucial for detailing the extent of bone malformations and planning treatment. | Diagnosis of Du Pan syndrome is primarily based on clinical examination and the characteristic physical findings. Prenatal ultrasound may detect limb abnormalities suggestive of the syndrome. After birth, radiographic imaging is crucial for detailing the extent of bone malformations and planning treatment. | ||
==Treatment== | ==Treatment== | ||
Management of Du Pan syndrome is multidisciplinary, involving orthopedic surgeons, physiotherapists, and, in some cases, plastic and reconstructive surgeons. Treatment strategies are tailored to the individual and may include: | Management of Du Pan syndrome is multidisciplinary, involving orthopedic surgeons, physiotherapists, and, in some cases, plastic and reconstructive surgeons. Treatment strategies are tailored to the individual and may include: | ||
* Surgical interventions to correct limb and digit deformities. | * Surgical interventions to correct limb and digit deformities. | ||
* Prosthetic fitting and rehabilitation to improve mobility. | * Prosthetic fitting and rehabilitation to improve mobility. | ||
* Physical therapy to enhance function and strength. | * Physical therapy to enhance function and strength. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Du Pan syndrome varies depending on the severity of the deformities and the success of treatment interventions. With early and appropriate management, most individuals can lead active lives. | The prognosis for individuals with Du Pan syndrome varies depending on the severity of the deformities and the success of treatment interventions. With early and appropriate management, most individuals can lead active lives. | ||
==See Also== | ==See Also== | ||
* [[Congenital limb deformities]] | * [[Congenital limb deformities]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Orthopedic surgery]] | * [[Orthopedic surgery]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Genetic disorders with no OMIM]] | [[Category:Genetic disorders with no OMIM]] | ||
{{Medicine-stub}} | {{Medicine-stub}} | ||
Latest revision as of 19:23, 5 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
| Du Pan syndrome | |
|---|---|
| |
| Synonyms | Brachymesomelia and anonychia |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Shortened limbs, absence of nails |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, Genetic testing |
| Differential diagnosis | Nail-patella syndrome, Aplasia cutis congenita |
| Prevention | |
| Treatment | Supportive care, Physical therapy |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
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Du Pan syndrome is a rare congenital condition characterized by the combination of fibular hemimelia, where part of the fibula (one of the two bones in the lower leg) is missing, and ectrodactyly, the absence of one or more central digits on the hands and/or feet. This syndrome represents a significant challenge in terms of medical management and rehabilitation, aiming to improve the quality of life for those affected.
Etiology[edit]
The exact cause of Du Pan syndrome remains unknown. However, it is believed to be a genetic disorder that follows an autosomal recessive inheritance pattern. This means that a child must inherit one copy of the defective gene from each parent to be affected. Research is ongoing to identify the specific genes involved.
Clinical Features[edit]
Individuals with Du Pan syndrome present with a range of physical anomalies that vary in severity. The hallmark features include:
- Fibular Hemimelia: This is the partial or complete absence of the fibula. It is one of the most common congenital lower limb deficiencies and can lead to significant limb length discrepancy and foot deformities.
- Ectrodactyly: Also known as split-hand/split-foot malformation, this involves the absence of one or more central digits on the hands and/or feet, which can significantly affect their function and appearance.
- Additional anomalies may include tibial torsion, foot deformities such as clubfoot, and, in some cases, issues with other organs or systems.
Diagnosis[edit]
Diagnosis of Du Pan syndrome is primarily based on clinical examination and the characteristic physical findings. Prenatal ultrasound may detect limb abnormalities suggestive of the syndrome. After birth, radiographic imaging is crucial for detailing the extent of bone malformations and planning treatment.
Treatment[edit]
Management of Du Pan syndrome is multidisciplinary, involving orthopedic surgeons, physiotherapists, and, in some cases, plastic and reconstructive surgeons. Treatment strategies are tailored to the individual and may include:
- Surgical interventions to correct limb and digit deformities.
- Prosthetic fitting and rehabilitation to improve mobility.
- Physical therapy to enhance function and strength.
Prognosis[edit]
The prognosis for individuals with Du Pan syndrome varies depending on the severity of the deformities and the success of treatment interventions. With early and appropriate management, most individuals can lead active lives.
See Also[edit]
