Which are the causes of Stuve-Wiedemann Syndrome?

Stuve-Wiedemann Syndrome (SWS) is a rare genetic disorder that affects various systems of the body. It is primarily caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene, which is responsible for producing a protein involved in cell signaling and development. These mutations disrupt the normal functioning of the protein, leading to the characteristic features and symptoms of SWS.

The inheritance pattern of SWS is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will have SWS.

SWS affects multiple systems in the body, including the skeletal, muscular, and nervous systems. One of the hallmark features of SWS is severe skeletal abnormalities, such as bowing of the long bones, joint contractures, and a narrow chest. These skeletal abnormalities can lead to difficulties with movement and breathing.

Muscular problems are also common in individuals with SWS. They may experience muscle weakness, low muscle tone (hypotonia), and episodes of muscle stiffness or spasms. These muscle-related symptoms can contribute to feeding difficulties, respiratory problems, and delayed motor development.

The nervous system is also affected in SWS, leading to various neurological symptoms. Infants with SWS often have respiratory distress and may require assistance with breathing. They may also experience episodes of high body temperature (hyperthermia) and have an increased risk of developing life-threatening infections.

Other features of SWS may include facial abnormalities like a small chin, a high-arched palate, and a small mouth. Additionally, individuals with SWS may have eye abnormalities such as clouding of the cornea (corneal opacity) or an abnormally small eye (microphthalmia).

Due to the complexity and severity of the symptoms, individuals with SWS often require multidisciplinary medical care involving various specialists, including orthopedic surgeons, pulmonologists, neurologists, and geneticists. Treatment focuses on managing the symptoms and improving the quality of life for affected individuals.

In conclusion, Stuve-Wiedemann Syndrome is a rare genetic disorder caused by mutations in the LIFR gene. It affects multiple systems in the body, primarily the skeletal, muscular, and nervous systems. The syndrome is inherited in an autosomal recessive manner. Early diagnosis and comprehensive medical care are crucial for managing the symptoms and providing appropriate support to individuals with SWS.