Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported. Disease data Classification Malformation syndrome Synonyms Question mark ear syndrome Question mark ear syndrome ORPHA code 137888 OMIM code 615706 ICD10 code Q75.8 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