Revesz syndrome
Synonyms: Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome · Revesz-DeBuse syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Revesz syndrome | Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome · Revesz-DeBuse syndrome |
| fr | Syndrome de Revesz | Dyskératose congénitale avec rétinopathie exsudative bilatérale · Syndrome de Revesz-DeBuse · Syndrome de rétinopathie-anémie-anomalies du SNC · Syndrome de rétinopathie-anémie-anomalies du système nerveux central |
| de | Revesz-Syndrom | Dyskeratosis congenita mit bilateraler exsudativer Retinopathie · Retinopathie - Anämie - ZNS-Anomalien · Revesz-Debuse-Syndrom |
| es | Síndrome de Revesz | Disqueratosis congénita con retinopatía exudativa bilateral · Síndrome de Revesz-DeBuse · Síndrome de retinopatía-anemia-anomalías del sistema nervioso central |
| it | Sindrome di Revesz | Discheratosi congenita con retinopatia essudativa bilaterale · Sindrome di Revesz-DeBuse · Sindrome retinopatia-anemia-anomalie del sistema nervoso centrale |
| nl | Syndroom van Revesz | Dyskeratosis congenita met bilaterale exsudatieve retinopathie · Retinopathie - anemie - anomalieën van centraal zenuwstelsel-syndroom · Syndroom van Revesz-DeBuse |
| pt | Síndrome Revesz | Disqueratose congénita com retinopatia exsudativa bilateral · Síndrome Revesz-DeBuse · Síndrome de retinopatia-anemia-anomalias do sistema nervoso central |
| pl | Zespół Revesza | Dyskeratoza wrodzona z obustronną retinopatią wysiękową · Zespół retinopatii, niedokrwistości i wad centralnego układu nerwowego · Zespół Revesz i DeBuse'ego |
| cs | Reveszův syndrom | Dyskeratosis congenita s bilaterální exudativní retinopatií · Syndrom zahrnující retinopatii, anémii a anomálie centrálního nervového systému · Reveszův-DeBuseův syndrom · Revesz-DeBuseův syndrom |
| uk | Синдром Ревежа | Вроджений дискератоз з двобічною ексудативною ретинопатією · Синдром ретинопатії-анемії-аномалій центральної нервової системи · Синдром Ревеса-Дебуса |
| zh | Revesz综合征 | 视网膜病-贫血-中枢神经系统异常综合征 |
| tr | Revesz sendromu | Revesz-DeBuse sendromu · Bilateral eksüdatif retinopati ile seyreden diskeratozis konjenita · Retinopati-anemi-merkezi sinir sistemi anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268130 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | 3A70.0 | NTBT | attributed | validated |
| MONDO | 0009990 | E | validated | |
| MeSH | C538371 | E | validated | |
| UMLS | C1327916 | E | validated | |
| GARD | 4695 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TINF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11824 | ENSG00000092330 | 604319 | 14q12 | TERF1 interacting nuclear factor 2 | 18252230[PMID]_21477109[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 1404302[PMID]_18252230[PMID]_21477109[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET_1404302[PMID]_18252230[PMID]_21477109[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2025-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0430048 | Intracranial calcification | |
| Frequent (79-30%) | ||
| HP:0001915 | Aplastic anemia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007898 | Exudative retinopathy | |
| HP:0007617 | Fine, reticulate skin pigmentation | |
| HP:0001510 | Growth delay | |
| HP:0000252 | Microcephaly | |
| HP:0008404 | Nail dystrophy | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002745 | Oral leukoplakia | |
| HP:0000541 | Retinal detachment | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0004334 | Dermal atrophy | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17901676[PMID]_17874088[PMID]_33097095[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3088
- This record as JSON: /data/d/3088.json