Catalog

Cerebro-oculo-facio-skeletal syndrome

No MMS code

Link to WHO Definition

Cerebro-oculo-facio-skeletal syndrome – http://id.who.int/icd/entity/2067824754

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterised by a severe sensorineural involvement. COFS syndrome constitutes the prenatal extreme form of Cockayne syndrome. Clinically, the following criteria are found: congenital microcephaly, congenital cataract and/or microphthalmia, arthrogryposis, severe psychomotor developmental delay, height-weight growth delay (principally postnatal) and facial dysmorphism (prominent metopic suture, micrognathism), axial hypotonia with peripheral hypertonia and feeding difficulties.