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Mandibulofacial dysostosis with alopecia

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Disease definition

A rare mandibulofacial dysostosis characterized by 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.


Classification level: Disorder

  • MFDA

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant, Not applicable

Age of onset: Infancy, Neonatal

ICD-10: Q75.4

OMIM: 616367

UMLS: C4225349

A summary on this disease is available in Français (2020) Español (2020) Deutsch (2020) Nederlands (2020)
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