Disorders

Hajdu-Cheney Syndrome

Synonym(s): Acroosteolysis with Osteoporosis and Changes in Skull and Mandible, Arthrodentoosteodysplasia, Cheney Syndrome, HJCYS

OMIM

Gene	Locus	Protein
NOTCH2	1p13-p11	Neurogenic locus notch homolog protein 2

Laboratory	Test Method	Prenatal	Carrier *
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis of select exons

^* 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.