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GTR Home > Conditions/Phenotypes > Mandibulofacial dysostosis with alopecia

Mandibulofacial dysostosis with alopecia

Summary

A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss. [from SNOMEDCT_US]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ET-A, ETA, ETA-R, ETAR, ETRA, MFDA, hET-AR, EDNRA
    Summary: endothelin receptor type A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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