Stuve–Wiedemann dysplasia

Stuve–Wiedemann Syndrome (SWS), also known as Stuve–Wiedemann dysplasia, is a rare genetic disorder characterized by skeletal abnormalities, including bowing of the long bones, camptodactyly (permanent flexion of the fingers), and a high risk of neonatal respiratory distress and hyperthermia. The condition was first described by Stuve and Wiedemann in 1971.

Etiology

Stuve–Wiedemann Syndrome is caused by mutations in the LIFR gene located on chromosome 5p13.1. This gene is crucial for the development and function of the nervous system and the regulation of bone growth. Mutations in the LIFR gene lead to the disruption of these processes, resulting in the symptoms observed in SWS.

Symptoms

The clinical presentation of Stuve–Wiedemann Syndrome can vary significantly among affected individuals. Common symptoms include:

• Bowing of the long bones
• Camptodactyly
• Short stature
• Respiratory distress in the neonatal period
• Hyperthermia
• Feeding difficulties
• Skeletal abnormalities such as scoliosis and hip dysplasia

Diagnosis

Diagnosis of Stuve–Wiedemann Syndrome is primarily based on clinical features and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the LIFR gene.

Treatment

There is no cure for Stuve–Wiedemann Syndrome. Treatment focuses on managing symptoms and improving quality of life. This may include:

• Orthopedic interventions to correct bone abnormalities
• Respiratory support for those with breathing difficulties
• Management of hyperthermia
• Physical therapy to improve mobility and muscle strength

Prognosis

The prognosis for individuals with Stuve–Wiedemann Syndrome varies. Some children experience significant health challenges and may have a reduced lifespan, while others may live into adulthood with proper management of their symptoms.

See also

• Genetic disorder
• Skeletal dysplasia
• Rare diseases

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