Emanuel syndrome
Findings
No curated finding names Emanuel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0012176), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
90 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.
- Recurrent otitis mediaHPOHP:0000403
- 61 of 63 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Delayed eruption of primary teethHPOHP:0000680
- 50 of 63 reported patients
- Preauricular pitHPOHP:0004467
- 96 of 126 reported patients
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- 47 of 63 reported patients
- Hearing impairmentHPOHP:0000365
- 45 of 63 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 78
- Congenital hip dislocationHPOHP:0001374
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- 23 of 63 reported patients
Where it sits
- A kind of
Other names
2 names
Resolves to: Emanuel syndrome
- Also called
- Der(22)t(11;22) syndromesupernumerary der(22) syndrome