night blindness-skeletal anomalies-dysmorphism syndrome
MONDO:0015326Mondo
Findings
No curated finding names night blindness-skeletal anomalies-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
Definition from the Mondo Disease Ontology (MONDO:0015326), read 2026-09-29. CC BY 4.0.
Features
23 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 electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormal retinal vascular morphologyHPOHP:0008046
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Down-sloping shoulderHPOHP:0200021
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
Show the remaining 11
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- SynophrysHPOHP:0000664
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- Abnormality of the noseHPOHP:0000366
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: night blindness-skeletal anomalies-dysmorphism syndrome
- Also called
- Hunter-Thompson-Reed syndrome