has characteristic has characteristic X-linked inheritance X-linked disease syndromic disease X-linked mandibulofacial dysostosis https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/branchial_arch_syndrome_x_linked_2 Orphanet:1131 OMIM:301950 MESH:C537102 MFD Toriello type X-linked mandibulofacial dysostosis with limb anomalies MEDGEN:375543 mandibulofacial dysostosis, X-linked MONDO:0010539 X-linked branchial arch syndrome mandibulofacial dysostosis Toriello type SCTID:719813003 branchial arch syndrome X-linked mandibulofacial dysostosis, Toriello type GARD:0001002 icd11.foundation:135565112 branchial arch syndrome, X-linked 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. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. UMLS:C1844918 multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete branchial arch or oral-acral syndrome mandibulofacial dysostosis acrofacial dysostosis X-linked syndromic intellectual disability