Disorders

Short Rib Polydactyly Syndrome, Majewski Type

Synonym(s): Polydactyly with Neonatal Chondrodystrophy Type II, Short Rib Polydactyly Syndrome, Type II

Gene	Locus	Protein
NEK1	4q32.3	Serine/threonine-protein kinase Nek1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany

^* 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.