Disorders

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)

Synonym(s): SADDAN Syndrome, Skeletal-Skin-Brain Syndrome, SSB Syndrome

Gene	Locus	Protein
FGFR3	4p16.3

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of select exons
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA	• Sequence analysis of select exons
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• 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.