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GTR Home > Conditions/Phenotypes > Calvarial doughnut lesions-bone fragility syndrome

Calvarial doughnut lesions-bone fragility syndrome

Synonyms
Doughnut lesions of skull, familial
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) (Pekkinen et al., 2019). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDL, SMS2, SGMS2
    Summary: sphingomyelin synthase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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