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GTR Home > Conditions/Phenotypes > Juberg-Hayward syndrome

Juberg-Hayward syndrome

Synonyms
Cleft lip/palate with abnormal thumbs and microcephaly; Orocraniodigital syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020). [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: 2410004I17Rik, EFO2, EFO2p, JHS, RBS, hEFO2, ESCO2
    Summary: establishment of sister chromatid cohesion N-acetyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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