Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Malformation syndrome Synonimy Question mark ear syndrome Question mark ear syndrome Kod ORPHA 137888 Kod OMIM 615706 Kod ICD10 Q75.8 Kod ICD11 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