Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia).
In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia).
In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adolescence or later.
Problems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex).
Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used. [from
MedlinePlus Genetics]