Stuve-Wiedemann syndrome

Developmental and genetic diseases

5p13.1 Google OMIM Orphanet PubMed Who named it? [Schwartz-Jampel syndrome]

*Gene map locus 5p13.1

STWS

SWS

Schwartz-Jampel syndrome, neonatal

Schwartz-Jampel syndrome, type 2

Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

[Clinical features: bowing of the lower limbs, with internal cortical thickening; wide metaphyses with abnormal trabecular pattern; camptodactyly ; episodic hyperthermia; respiratory and feeding distress]

[Inheritance: autosomal recessive]


Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome	Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedemann syndrome in a male infant	Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedemann syndrome in a male infant
American Journal of Human Genetics	Cases Journal	Cases Journal


Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedemann syndrome in a male infant
Cases Journal

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Edited by Aldo Campana, August 21, 2012