aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Findings
No curated finding names aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
Definition from the Mondo Disease Ontology (MONDO:0017934), read 2026-09-29. CC BY 4.0.
Features
35 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.
- Bilateral ptosisHPOHP:0001488
- Frequent (30% to 79% of cases)
- Broad thumbHPOHP:0011304
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Duplication of distal phalanx of toeHPOHP:0010193
- Frequent (30% to 79% of cases)
- Duplication of phalanx of halluxHPOHP:0010066
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Flexion contracture of the 2nd finger
Show the remaining 23
- Joint contracture of the 5th fingerHPOHP:0009183
- Frequent (30% to 79% of cases)
- Laryngeal stenosisHPOHP:0001602
- Frequent (30% to 79% of cases)
- Long eyelashesHPOHP:0000527
- Frequent (30% to 79% of cases)
- Long palpebral fissureHPOHP:0000637
- Frequent (30% to 79% of cases)
- Loss of voiceHPOHP:0001686
- Frequent (30% to 79% of cases)
- MicrodontiaHPOHP:0000691
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Also called
- aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndromeaphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome