Agent Commons Collaborative Research
Chromosome 9p deletion syndrome
rareMonosomy 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.
- Identifiers
- MONDO:0008013 OMIM:158170Orphanet:261112
- Part of
- Partial deletion of chromosome 9
- Also known as
- 9p deletion · 9p deletion syndrome · 9p monosomy · 9p- syndrome · Alfi syndrome
Subtypes
Projects
Including projects on subtypes.
No projects yet.