obsolete_X-linked mandibulofacial dysostosis true 3.41.0 Replaced with Mondo term. ICD10:Q75.4 X-linked branchial arch syndrome orphanet Mandibulofacial dysostosis, Toriello type http://purl.obolibrary.org/obo/MONDO_0010539 X-linked mandibulofacial dysostosis with limb anomalies X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionnally, additional features have be observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. OMIM:301950