Stuve-Wiedemann syndrome

Stuve-Wiedemann syndrome (STWS), also known as neonatal Schwartz-Jampel syndrome type 2 (SJS2), is caused by mutation in the leukemia inhibitory factor receptor gene (LIFR) (MIM.151443) on chromosome 5p13.

References

 Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC. Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report. Am J Med Genet A. 2008 Jun 10. PMID: #18546280#