" /> Stuve-wiedemann syndrome 1 - CISMeF





Preferred Label : Stuve-wiedemann syndrome 1;

Symbol : STWS1;

CISMeF acronym : SJS2; SWS; STWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SWS; Schwartz-jampel syndrome, type 2; Schwartz-jampel syndrome, neonatal; Stuve-wiedemann/schwartz-jampel type 2 syndrome; SJS2; STWS;

Description : Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36.1-p34.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the leukemia inhibitory factor receptor gene (LIFR, 151443.0001);

Prefixed ID : #601559;

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03/05/2025


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