Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Mandibulofacial dysostosis, Toriello type Dyzostoza żuchwowo-twarzowa sprzężona z chromosomem X z anomaliami kończyn Dyzostoza żuchwowo-twarzowa, typu Toriello Zespół łuku skrzelowego sprzężonego z chromosomem X X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies ORPHA code 1131 OMIM code 301950 ICD10 code Q75.4 ICD11 code LD25.2 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl