Revesz syndrome
MeSH: C538371ORPHA: 3088
Overview
dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12
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 Revesz syndrome, sourced from HPO and Orphanet clinical annotations.
Bone marrow hypocellularityIntracranial calcificationMicrocephalyRetinal detachmentCerebellar hypoplasiaGrowth delayAplastic anemiaOral leukoplakiaFine, reticulate skin pigmentationSerous retinal detachmentSparse hairNail dystrophyNeurodevelopmental delaySeizureAtaxiaFailure to thrive in infancyDermal atrophy
Classification & Codes
MeSH Code
C538371Orphanet Code
ORPHA:3088Revesz syndrome
| MeSH | C538371 |
| Orphanet | ORPHA:3088 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO