Revesz syndrome

Also known as: Dyskeratosis congenita variant with exudative retinopathy

Severe telomere disorder with bilateral exudative retinopathy and cerebellar hypoplasia.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: TINF2

Etiology & mechanism

TINF2 variants with very short telomeres.

Gene(s) involved (1)

TINF2

Symptoms & signs (7)

bone marrow failurecerebellar hypoplasiaexudative retinopathygrowth retardationintracranial calcificationnail dystrophysparse hair

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