Disorders

Craniometaphyseal Dysplasia, Autosomal Dominant

Synonym(s): CMDJ, Craniometaphyseal Dysplasia, Jackson Type

Gene	Locus	Protein
ANKH	5p15.2	Progressive ankylosis protein homolog

Laboratory	Test Method	Prenatal	Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• 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.