Stüve-Wiedemann syndrome

Orpha code: 3206OMIM code: 601559

Definition

Stüve-Wiedemann syndrome (SWS) is 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.

Disease data
Classification

Malformation syndrome

Synonyms
Neonatal Schwartz-Jampel syndrome
Dysplazja Stüve'a i Wiedemanna
SJS2
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
ORPHA code
3206
OMIM code
601559
ICD10 code
Q78.8
ICD11 code
LD24.C

No additional description.

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