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Мандибулофаціальний дизостоз з алопецією

ORPHA:443995· ICD-10 Q75.4· Mandibulofacial dysostosis with alopecia

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant, Not applicable
Вік початку
Infancy, Neonatal