/X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis

Rare Disease

MONDO:0010539

Also Known As

X-linked branchial arch syndromeX-linked mandibulofacial dysostosis with limb anomaliesmandibulofacial dysostosis, Toriello typemandibulofacial dysostosis, X-linkedMFD Toriello typebranchial arch syndrome X-linkedbranchial arch syndrome, X-linkedmandibulofacial dysostosis Toriello type

Definition

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.