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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Guo-Campeau type

Spondyloepimetaphyseal dysplasia, Guo-Campeau type

Synonyms
Spondyloepimetaphyseal dysplasia, Guo-Salian type

Summary

The Guo-Campeau type of spondyloepimetaphyseal dysplasia (SEMDGC) is characterized by severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms (Guo et al., 2023). Biallelic null mutations in the ERI1 gene have been reported to cause a less severe disorder, Hoxha-Alia syndrome, involving digital anomalies and mild intellectual disability (HXAL; 620662). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 3'HEXO, HEXO, HXAL, SEMDGC, SEMDGS, THEX1, ERI1
    Summary: exoribonuclease 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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