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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta, type 23

Osteogenesis imperfecta, type 23

Synonyms
Osteogenesis imperfecta, type XXIII

Summary

Osteogenesis imperfecta type XXIII (OI23) is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate (Tuysuz et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: LL5A, LL5alpha, OI23, PHLDB1
    Summary: pleckstrin homology like domain family B member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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