Revesz syndrome
Findings
No curated finding names Revesz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Definition from the Mondo Disease Ontology (MONDO:0009990), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Aplastic anemiaHPOHP:0001915
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Fine, reticulate skin pigmentationHPOHP:0007617
- 1 of 1 reported patient
Show the remaining 12
- Serous retinal detachmentHPOHP:0012231
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Short telomere lengthHPOHP:0031413
- 2 of 2 reported patients
- Visual lossHPOHP:0000572
- 1 of 1 reported patient
- Intracranial calcificationHPOHP:0430048
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TINF2HGNC:11824
- Definitive · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Revesz syndrome
- Also called
- DKCA5dyskeratosis congenita with bilateral exudative retinopathydyskeratosis congenita, autosomal dominant 5exudative retinopathy with bone marrow failureretinopathy-anemia-central nervous system anomalies syndromeRevesz-DeBuse syndrome