Which are the symptoms of Stuve-Wiedemann Syndrome?

Stuve-Wiedemann Syndrome (SWS) is an extremely rare genetic disorder that affects various systems of the body. It is characterized by a range of symptoms that can vary in severity from person to person. SWS is caused by mutations in the LIFR gene, which plays a crucial role in the development and functioning of bones, muscles, and other tissues.

One of the most prominent features of Stuve-Wiedemann Syndrome is skeletal abnormalities. Infants with SWS often have a condition called congenital bowing of the long bones, which means that their long bones, such as the femur and tibia, are bent. This can lead to fractures and difficulty with movement. Additionally, individuals with SWS may have a small chest, abnormal curvature of the spine (scoliosis), and joint contractures, which restrict the range of motion in their joints.

Another significant symptom of SWS is respiratory distress. Newborns with this syndrome may experience severe breathing difficulties, which can be life-threatening. They may have a weak cry, rapid breathing, and require respiratory support. These respiratory issues can persist throughout childhood and may require ongoing medical intervention.

Individuals with Stuve-Wiedemann Syndrome often have distinctive facial features. These can include a small jaw (micrognathia), a high forehead, a flattened bridge of the nose, and widely spaced eyes. Additionally, they may have a small mouth and a cleft palate, which can contribute to feeding difficulties and speech problems.

Another common symptom of SWS is hyperthermia. Individuals with this condition have difficulty regulating their body temperature, which can lead to recurrent episodes of high fever. These episodes can be triggered by even minor infections or stress and may require immediate medical attention.

Furthermore, individuals with SWS may experience muscle weakness and delays in motor development. They may have difficulty with activities such as sitting, standing, and walking. Some individuals may never achieve independent ambulation and may require assistive devices for mobility.

Other less common symptoms of Stuve-Wiedemann Syndrome include:

• Low levels of calcium in the blood (hypocalcemia)


• Abnormal heart rhythms (arrhythmias)


• Impaired growth and short stature


• Recurrent infections


• Abnormalities in the teeth and gums


• Genital abnormalities

Due to the rarity of Stuve-Wiedemann Syndrome, it is important for affected individuals to receive comprehensive medical care from a multidisciplinary team of specialists. Treatment focuses on managing the symptoms and providing supportive care to improve quality of life.