Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Disease data Classification Malformation syndrome Synonyms 9p deletion syndrome Zespół 9p Zespół Alfiego Zespół delecji 9p 9p- syndrome Alfi syndrome ORPHA code 261112 OMIM code 158170 ICD10 code Q93.5 ICD11 code LD44.91 *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