Du Pan syndrome

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Obesity, Sleep & Internal medicine
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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

Du Pan Syndrome

GDF5 and BMPR Pathway (Du Pan Syndrome)

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

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

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

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

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

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

• Congenital limb deformities
• Genetic disorders
• Orthopedic surgery

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