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ENStuve-Wiedemann Syndrome 1 (STWS1)
Alias:
Stuve-Wiedemann Syndrome
Sjs2
Stuve-Wiedemann/schwartz-Jampel Type 2 Syndrome
Neonatal Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome Type 2
Stuve-Wiedemann Dysplasia
Sws
Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome
Schwartz-Jampel Syndrome, Neonatal
Stüve-Wiedemann Syndrome 1
Stüve-Wiedemann Syndrome
Stws1
Stws
Schwartz-Jampel Syndrome, Type 2
Schwartz-Jampel Type 2 Syndrome
Stüve-Wiedemann Dysplasia
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Stuve-Wiedemann Syndrome 1, also known as stuve-wiedemann syndrome, is related to sturge-weber syndrome and schwartz-jampel syndrome, type 1, and has symptoms including apnea and hoarseness. An important gene associated with Stuve-Wiedemann Syndrome 1 is LIFR (LIF Receptor Subunit Alpha), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Translation Insulin regulation of translation. Affiliated tissues include bone and tongue, and related phenotypes are hyperhidrosis and abnormal autonomic nervous system physiology
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