Revesz syndrome

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Revesz syndrome

An extremely rare condition (OMIM:268130) characterised by bilateral exudative retinopathy, intrauterine growth retardation, fine sparse hair, reticulated skin pigmentation, ataxia due to cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, progressive psychomotor retardation and apparent chromosome instability.

Molecular pathology
Defects of TINF2, which encodes a protein of the shelterin complex that protects telomeres from being shortened by DNA repair, cause Revesz syndrome (retinopathy exudative with bone marrow failure).