Conditions / Skin

Revesz syndrome

info · Skin

A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.

Signs and symptoms

Fine, reticulate skin pigmentation
Serous retinal detachment
Bone marrow hypocellularity
Incoordination
Visual loss
Broad-based gait
Microcephaly
Cerebellar hypoplasia
Global developmental delay
Short telomere length

Also known as: DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5; exudative retinopathy with bone marrow failure