osteoporosis-oculocutaneous hypopigmentation syndrome
Findings
No curated finding names osteoporosis-oculocutaneous hypopigmentation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0011020), read 2026-09-29. CC BY 4.0.
Features
13 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 retinal morphologyHPOHP:0000479
- Very frequent (80% to 99% of cases)
- AlbinismHPOHP:0001022
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Reduced bone mineral densityMondoHP:0004349
Where it sits
Other names
2 names
Resolves to: osteoporosis-oculocutaneous hypopigmentation syndrome
- Also called
- Hernández-Fragoso syndromeOOCHS