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Turnpenny-fry syndrome

Synonyms
NEUROCARDIOSKELETAL SYNDROME

Summary

Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MEL-18, RNF110, TPFS, ZNF144, PCGF2
    Summary: polycomb group ring finger 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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