SNP Shot: Genomic Insights

Stüve-Wiedemann syndrome is a severe disorder present at birth, marked by skeletal abnormalities and autonomic nervous system dysfunction. The autonomic nervous system controls vital, involuntary processes such as breathing rate and body temperature regulation. Key features include bowed long bones in the legs, feeding and swallowing difficulties, and episodes of dangerous hyperthermia (high body temperature).

Beyond leg bowing, affected infants may exhibit bowed arms, permanently bent fingers and toes (camptodactyly), and joint contractures (deformities) in the elbows and knees, limiting movement. Additional characteristics include abnormalities in the pelvic bones (ilia) and reduced bone mineral density (osteopenia).

Autonomic nervous system dysfunction in infants with Stüve-Wiedemann syndrome frequently results in feeding and swallowing problems, breathing issues, and hyperthermia. They may also experience excessive sweating, even with normal body temperature, or a decreased ability to sense pain. Due to challenges in regulating breathing and body temperature, many infants with this condition do not survive beyond infancy. However, some individuals with Stüve-Wiedemann syndrome survive into adolescence or beyond.

Breathing and swallowing difficulties typically improve in affected children who survive infancy, though body temperature regulation remains a challenge. Furthermore, leg bowing tends to worsen, and children with Stüve-Wiedemann syndrome may develop prominent joints, scoliosis (spinal curvature), and spontaneous bone fractures. Some affected individuals have a smooth tongue lacking fungiform papillae (taste bud-containing bumps). Certain reflexes may also be lost, particularly the corneal reflex (blinking when the eye is touched) and the patellar reflex (knee-jerk reflex).

A condition formerly known as Schwartz-Jampel syndrome type 2 is now recognized as part of Stüve-Wiedemann syndrome. Researchers advise against using the term "Schwartz-Jampel syndrome type 2" anymore.

Inheritance:

Stüve-Wiedemann syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to develop. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but usually do not exhibit any signs or symptoms of the condition themselves.