Acrootoocular syndrome
MONDO:0009920Mondo
Findings
No curated finding names Acrootoocular syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
Definition from the Mondo Disease Ontology (MONDO:0009920), read 2026-09-29. CC BY 4.0.
Features
41 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.
- Abnormal earlobe morphologyHPOHP:0000363
- Frequent (30% to 79% of cases)
- Abnormal finger flexion creaseHPOHP:0006143
- Frequent (30% to 79% of cases)
- Abnormality of facial musculatureHPOHP:0000301
- Frequent (30% to 79% of cases)
- AnodontiaHPOHP:0000674
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Choking episodesHPOHP:0030842
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Cutaneous syndactylyHPOHP:0012725
- Frequent (30% to 79% of cases)
- Decreased palmar creasesHPOHP:0006184
- Frequent (30% to 79% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
Reported absent (1)
- Intellectual disabilityHPOHP:0001249
Show the remaining 29
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Grayish enamelHPOHP:0000683
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Acrootoocular syndrome
- Also called
- pseudopapilledema-blepharophimosis-hand anomalies syndrome