This website provides information on patients with mutations in the NPR2 gene, including clinical data, molecular data, management and research options.
Skeletal Dysplasias are a group of more than 400 rare disorders that affect bone and cartilage development, with some subtypes causing impairment in neurological function as well. Diagnosis is heavily dependent upon the radiographic pattern of the skeleton and clinical characteristics, which tend to overlap between subtypes. Acromesomelic Dysplasia 1, Maroteaux Type (AMD1/AMDM) is an extremely rare form of skeletal dysplasia that results in short-limb dwarfism and has been reported to be caused by variants in the NPR2 gene.
Not all individuals with a mutation in the NPR2 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment for patients with mutations in the NPR2 gene.
Mohammed Faruq, MBBS, PhD, Genomics and Molecular Medicine Research Area (IGIB), CSIR-Institute of Genomics and Integrative Biology, New Delhi, India, firstname.lastname@example.org