COFS syndrome

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Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The COFS syndrome , acronym for C erebro - O culo - F acio - S kelett , is a rare, lethal running congenital disease with the main features of a severe psychomotor retardation , facial dysmorphia , skeletal abnormalities with flexion .

Synonyms are: Pena Shokeir Syndrome II; Latin cerebro-oculo-facial-skeletal syndrome

The disease can be viewed as the prenatal extreme of Cockayne syndrome .

The first description and naming comes from 1974 by the human geneticists D. J. Pena and Mohamed HK Shokeir .


The frequency is given differently with about 1 in 10,000 or less than 1 in 1,000,000, the inheritance is autosomal - recessive .

root cause

Depending on the underlying genetic defect, the following types can be distinguished:

All four genes code for proteins in the same DNA repair reaction chain.

Clinical manifestations

Clinical criteria are:

Photosensitivity, peripheral neuropathy , inner ear hearing loss and retinopathia pigmentosa can also occur.


The diagnosis can be suspected intrauterine by fine ultrasound and confirmed human genetically .

Differential diagnosis

The following must be distinguished from the differential diagnosis:


  • ML Kulkarni, A. Sehgal, KS Keshavamurthy, PM Kulkarni: Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. In: Indian journal of pediatrics. Vol. 71, No. 12, December 2004, pp. E56-e57, PMID 15630331 .
  • I. Casteels, A. Wijnants, P. Casaer, E. Eggermont, L. Misotten, JP Fryns: Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? In: Genetic counseling. Vol. 2, No. 1, 1991, pp. 43-46, PMID 1741976 .

Individual evidence

  1. a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. a b c d e f COFS syndrome. In: Orphanet (Rare Disease Database).
  3. SD Pena, MH Shokeir: Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. In: Clinical genetics. Vol. 5, No. 4, 1974, pp. 285-293, PMID 4211825 .
  4. 214150 Cerebrooculofacioskeletal syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ Cerebrooculofacioskeletal syndrome 2.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ Cerebrooculofacioskeletal syndrome 3.  In: Online Mendelian Inheritance in Man . (English)
  7. ^ Cerebrooculofacioskeletal syndrome 4.  In: Online Mendelian Inheritance in Man . (English)
  8. ^ D. Paladini, M. D'Armiento, I. Ardovino, P. Martinelli: Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 16, No. 1, July 2000, pp. 91-93, doi: 10.1046 / j.1469-0705.2000.00150.x , PMID 11084975 .

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