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GTR Home > Conditions/Phenotypes > Acromesomelic dysplasia 4

Acromesomelic dysplasia 4

Summary

Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AMD4, PKG2, PRKGR2, SMDP, cGK2, cGKII, PRKG2
    Summary: protein kinase cGMP-dependent 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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