Stüve-Wiedemann syndrome 1
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.
MONDO:0009717
Schwartz-Jampel syndrome
is_a
MONDO:0019698
bent bone dysplasia
is_a
MONDO:0031280
Stuve-Wiedemann syndrome
is_a
SJS2
exact
STUVE-Wiedemann syndrome
broad
STWS
exact
SWS
broad
Schwartz-Jampel syndrome neonatal
exact
Schwartz-Jampel syndrome type 2
exact
Schwartz-Jampel syndrome, neonatal
exact
Stuve-Wiedemann syndrome
broad
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
exact
Stws
broad
Stüve-Wiedemann dysplasia
exact
Stüve-Wiedemann syndrome
broad
Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome
exact
neonatal Schwartz-Jampel syndrome
exact
neonatal Schwartz-Jampel syndrome type 2
related