Cooper-Jabs syndrome
Findings
No curated finding names Cooper-Jabs syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0008850), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Abnormality of the middle earHPOHP:0000370
- Very frequent (80% to 99% of cases)
- Anteriorly placed anusHPOHP:0001545
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Proximal placement of thumbHPOHP:0009623
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Abnormal dermatoglyphicsHPOHP:0007477
- Frequent (30% to 79% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Cooper-Jabs syndrome
- Also called
- aural atresia-multiple congenital anomalies-intellectual disability syndrome