Chromosome 9p deletion syndrome
Chromosome 9p deletion syndrome
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.
Also known as 9p deletion, 9p deletion syndrome, 9p monosomy, 9p- syndrome, Alfi syndrome, chromosome 9p deletion, deletion 9p, monosomy 9p, monosomy 9p syndrome, monosomy type 9p, partial deletion of chromosome 9p, partial deletion of the short arm of chromosome 9, partial deletion of the short arm of chromosome type 9, partial monosomy 9p, partial monosomy of chromosome 9p, partial monosomy of the short arm of chromosome 9 — per MONDO