osteoporosis-oculocutaneous hypopigmentation syndrome
MeSH: C536062ORPHA: 2786
Overview
Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with osteoporosis-oculocutaneous hypopigmentation syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal retinal morphologyVisual impairmentMyopiaNystagmusPlatyspondylyOsteoporosisPallorHypopigmentation of the skinAlbinismKyphosisShort statureHypopigmentation of hair
Classification & Codes
MeSH Code
C536062Orphanet Code
ORPHA:2786osteoporosis-oculocutaneous hypopigmentation syndrome
| MeSH | C536062 |
| Orphanet | ORPHA:2786 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO