Skeletal dysplasias [624 genes]

Skeletal dysplasias encompasses a broad and heterogeneous group of rare diseases. They are characterized by abnormal development of bones, joints, and cartilage. Although skeletal dysplasia can affect different parts of the body, depending on the disease, the most frequently affected areas are the legs, arms, rib cage, skull, and spine. They are classified into 771 entities, related to 552 genes, and distributed in 41 groups of pathologies (PMID: 36779427). The two most common of all these diseases are achondroplasia and osteogenesis imperfecta.

Approximately 1 / 5,000 newborns suffer from skeletal dysplasia.

Recommended service as a more cost-efficient approach to patients with unaffiliated skeletal dysplasia, as it brings together in a single study the analysis of all the genes to date related to this group of pathologies, allowing the detection of both single nucleotide variants and CNVs.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities or even the administration of new generation targeted treatments, as occurs in the case of achondroplasia.

Service is indicated when skeletal dysplasia is suspected based on clinical and radiological manifestations in the pre- or postnatal period.