chromosome 18q deletion syndrome
Findings
No curated finding names chromosome 18q deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.
Definition from the Mondo Disease Ontology (MONDO:0011147), read 2026-09-29. CC BY 4.0.
Features
78 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.
- HypotoniaHPOHP:0001252
- 10 of 14 reported patients
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal myelinationHPOHP:0012447
- Frequent (30% to 79% of cases)
- Abnormal palmar dermatoglyphicsHPOHP:0001018
- Frequent (30% to 79% of cases)
- Abnormal retinal morphologyHPOHP:0000479
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Bilateral conductive hearing impairment
Show the remaining 66
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- IncoordinationHPOHP:0002311
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 8 of 14 reported patients
- Frequent (30% to 79% of cases)
- KyphoscoliosisHPOHP:0002751
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
Where it sits
Other names
12 names
Resolves to: chromosome 18q deletion syndrome
- Also called
- 18q deletion syndrome18Q syndrome18q-syndromeChromosome 18q- Syndromedeletion 18qdeletion 18q syndromemonosomy type 18qpartial deletion of chromosome 18qpartial deletion of the long arm of chromosome 18partial deletion of the long arm of chromosome type 18partial monosomy of chromosome 18qpartial monosomy of the long arm of chromosome 18