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GTR Home > Conditions/Phenotypes > Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive Kenny-Caffey syndrome

Synonyms
Kenny-Caffey syndrome type 1
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia. [from ORDO]

Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HRD, KCS, KCS1, PEAMO, pac2, TBCE
    Summary: tubulin folding cofactor E

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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