Disorders

Stuve-Wiedemann Syndrome

Synonym(s): Schwartz-Jampel Syndrome, Neonatal, Schwartz-Jampel Syndrome, Type 2

Gene	Locus	Protein
LIFR	5p13-p12	Leukemia inhibitory factor receptor

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Sequence analysis of select exons
Praxis fuer Humangenetik Wien - Vienna, Austria

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.