chromosome 9p deletion syndrome
Findings
No curated finding names chromosome 9p deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008013), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
77 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Clinodactyly of the 4th toeHPOHP:0011918
- 1 of 1 reported patient
- Clinodactyly of the 5th toeHPOHP:0001864
- 1 of 1 reported patient
- Deep philtrumHPO
Where it sits
- A kind of
- Narrower terms (2)
Other names
16 names
Resolves to: chromosome 9p deletion syndrome
- Also called
- 9p deletion9p deletion syndrome9p monosomy9p- 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