Chromosome 9p deletion syndrome

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

0 clinical trials for this condition and its sub-types, 0 tagged with Chromosome 9p deletion syndrome itself.