chromosome 10q23 deletion syndrome
Findings
No curated finding names chromosome 10q23 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
Definition from the Mondo Disease Ontology (MONDO:0012830), read 2026-09-29. CC BY 4.0.
Features
37 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.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Language impairmentHPOHP:0002463
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Low-set ears
Show the remaining 25
- Breast aplasiaHPOHP:0100783
- Congenital onset
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Occasional (5% to 29% of cases)
- Chiari malformationHPOHP:0002308
- Occasional (5% to 29% of cases)
- Curved middle phalanx of the 4th toeHPOHP:0100444
- Occasional (5% to 29% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
Where it sits
Other names
3 names
Resolves to: chromosome 10q23 deletion syndrome
- Also called
- Del(10)(q22.3q23.3)deletion 10q22.3q23.3monosomy 10q22.3q23.3