Hematology · Hematology / Bone marrow failure
Revesz syndrome
also: Dyskeratosis congenita variant with exudative retinopathy
Severe telomere disorder with bilateral exudative retinopathy and cerebellar hypoplasia.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- TINF2
- Alternative names & eponyms
- Dyskeratosis congenita variant with exudative retinopathy
Etiology & mechanism
TINF2 variants with very short telomeres.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Revesz syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Dyskeratosis congenita
bone marrow failure, nail dystrophy
2 shared
Hay–Wells syndrome
nail dystrophy, sparse hair
2 shared
Hoyeraal–Hreidarsson syndrome
bone marrow failure, cerebellar hypoplasia
1 shared
Bazex syndrome
nail dystrophy
1 shared
Cardiofaciocutaneous syndrome
sparse hair
1 shared
CHARGE syndrome
growth retardation
1 shared
Ectrodactyly–ectodermal dysplasia–clefting syndrome
sparse hair
1 shared
Hypohidrotic ectodermal dysplasia
sparse hair
1 shared
Jacobsen syndrome
growth retardation
1 shared
Langer–Giedion syndrome
sparse hair
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