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GTR Home > Conditions/Phenotypes > Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome

Synonyms
Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 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

Help
Imported from Human Phenotype Ontology (HPO)

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