Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. Disease data Classification Malformation syndrome Synonyms Intellectual disability-epilepsy-bulbous nose syndrome Niepełnosprawność intelektualna - padaczka - kartoflowaty nos ORPHA code 2139 OMIM code - ICD10 code Q87.8 ICD11 code - *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