Stuve-Wiedemann Syndrome (LIFR)
Stuve-Wiedemann syndrome is an autosomal recessive, pan-ethnic disease caused by pathogenic variants in the LIFR gene. Clinical features include skeletal abnormalities, such as short and bowed legs, scoliosis, and joint contractures, as well as difficulties regulating temperature, resulting in overheating that may be fatal. Patients also have difficulty eating and swallowing, and their lungs are often underdeveloped. Therefore, most patients with this disease do not survive past infancy. For the rare patients that do survive, their intelligence is not affected but the symptoms persist and may worsen. No genotype-phenotype correlation has been reported.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Stuve-Wiedemann Syndrome||LIFR||3, 6, 7, 9, 12-17  (*9)||AR||Worldwide||< 1 in 500||78%||0.000440722785368004|