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Hyperparathyroidism, transient neonatal

Summary

Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP/ZF, CAT1, CATL, ECAC2, HRPTTN, HSA277909, LP6728, ZFAB, TRPV6
    Summary: transient receptor potential cation channel subfamily V member 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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