Stüve-Wiedemann syndrome 1
Stüve-Wiedemann syndrome 1
Definition
A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
Also known as neonatal Schwartz-Jampel syndrome, Schwartz-Jampel syndrome neonatal, Schwartz-Jampel syndrome type 2, Schwartz-Jampel syndrome, neonatal, SJS2, Stüve-Wiedemann dysplasia, Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome, STWS — per MONDO