Mandibulofacial dysostosis with alopecia

Orpha code: 443995OMIM code: 616367

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.

Disease data
Classification

Malformation syndrome

Synonyms
MFDA
MFDA
Obustronna i symetryczna dysplazja uszno-żuchwowa z łysieniem
ORPHA code
443995
OMIM code
616367
ICD10 code
Q75.4
ICD11 code
-

No additional description.

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