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Short stature, Dauber-Argente type

Summary

Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 (147440) due to impaired proteolysis of IGFBP3 (146732) and IGFBP5 (146734), resulting in reduced free IGF1 (Dauber et al., 2016). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: PAPP-A2, PAPP-E, PAPPE, PLAC3, SSDA, PAPPA2
    Summary: pappalysin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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