Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Disease data Classification Malformation syndrome Synonyms Franceschetti-Klein syndrome Zespół Franceschetti i Kleina Mandibulofacial dysostosis without limb anomalies Dyzostoza żuchwowo-twarzowa bez wad kończyn ORPHA code 861 OMIM code 613717 ICD10 code Q75.4 ICD11 code LD2F.16 *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