Catalog

CAMFAK syndrome

No MMS code

Link to WHO Definition

CAMFAK syndrome – http://id.who.int/icd/entity/1762530521

CAMFAK or CAMAK syndrome is the acronym used to describe a syndrome characterised by Cataract, Microcephaly, and Kyphoscoliosis, with or without Failure to thrive and Arthrogryposis. Some authors have suggested that CAMFAK syndrome is a form of early-onset Cockayne syndrome with peripheral and central demyelination, or a form of Pena-Shokeir syndrome type II (COFS syndrome).