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Barber-Say syndrome

Synonyms
Hypertrichosis, atrophic skin, ectropion, and macrostomia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39, TWIST2
    Summary: twist family bHLH transcription factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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