/chromosome 9p deletion syndrome

chromosome 9p deletion syndrome

Rare Disease

MONDO:0008013

Also Known As

9p deletion9p deletion syndrome9p monosomy9p syndrome9p- syndromeAlfi syndromechromosome 9p deletiondeletion 9pmonosomy 9pmonosomy 9p syndromemonosomy type 9ppartial deletion of chromosome 9ppartial deletion of the short arm of chromosome 9partial deletion of the short arm of chromosome type 9partial monosomy 9ppartial monosomy of chromosome 9ppartial monosomy of the short arm of chromosome 9

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.