Preferred Label : CAMFAK syndrome;
ICD-11 definition : 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).;
ICD-11 synonym : CAMAK - [Cataract - microcephaly - arthrogryposis - kyphosis] syndrome; Cataract - microcephaly - arthrogryposis - kyphosis; CAMAK syndrome;
Origin ID : 1762530521;
Automatic exact mappings (from CISMeF team)
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).
