What characteristics do patients with changes in the two copies of the LIFR gene (Stuve Wiedemann syndrome) have in common?
People with Stuve Wiedemann syndrome present a with a multisystem disorder.
Antenatal findings include diminished amniotic fluid (oligoamnios), short long bones, growth restriction and reduced fetal movements.
At birth temperature instability, respiratory and feeding problems (dysautonomia), are common increasing the risk of early death. Skeletal manifestations include short and bowed legs, contractures of the fingers (camptodactyly) and/or of the feet (talipes equinovarus).
Infants with Stuve Wiedemann syndrome manifest recognizable facial characteristics, severe progressive skeletal deformities and some altered involuntary body functions (dysautonomia) like extreme sweating and reduced pain sensation. Cognition is normal.
The facial signs include prominent forehead, short nose, pursed mouth, square jaw, midface hypoplasia and poorly enamelled teeth. The skeletal abnormalities are severe and progressive.
What other health implications may be associated with Stuve Wiedemann syndrome?
Children may have multiple bone anomalies: short hand and finger bones, finger contractures, hip bones destruction, spine or ankle deviation, low bone mineral density. As a consequence, they usually have recurrent fractures, short stature and motor delay.
They could also have smooth tongue or absent corneal reflex as part of those involuntary body functions, and hypotonia. As a consequence, they may have dehydration and skin/eye/tongue wounds.
What may Stuve Wiedemann syndrome mean for the future of my child?
Most children have respiratory and/or feeding problems, as well as temperature dysregulation during the neonatal period. During infancy, they usually have motor delay but they achieve to walk independently, their quality of life depends of the result of skeletal deformities and orthopedic and surgery interventions. They do not have intellectual disability.