Homepage > Rare diseases > Search

Search for a rare disease

*
(*) mandatory field

Mandibulofacial dysostosis with alopecia

Suggest an update
Your message has been sent Your message has not been sent. Please contact an administrator.
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.

ORPHA:443995

Classification level: Disorder

Synonym(s):
  • 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)
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.