Preferred Label : Cerebro-oculo-facio-skeletal syndrome;
ICD-11 definition : Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to
a family of diseases of DNA repair, characterized 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 withperipheral hypertonia and feeding difficulties.;
ICD-11 synonym : Cerebrooculofacioskeletal syndrome; COFS - [Cerebro-oculo-facio-skeletal syndrome]; COFS - [Cerebrooculofacioskeletal syndrome]; Pena-Shokeir syndrome type 2;
ICD-11 acronym : COFS;
Origin ID : 2067824754;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to
a family of diseases of DNA repair, characterized 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 withperipheral hypertonia and feeding difficulties.
