Catalog

X-linked mandibulofacial dysostosis

No MMS code

Link to WHO Definition

X-linked mandibulofacial dysostosis – http://id.who.int/icd/entity/135565112

X-linked mandibulofacial dysostosis is characterised by microcephaly, learning disability and anomalies of the branchial arches with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, bilateral hearing loss, and a slightly webbed neck.