COFS syndrome
| 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 .
distribution
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:
- COFS type 1 with mutations in ERCC6 - gene on chromosome 10 locus q11.23
- COFS type 2 with strong photosensitivity , with mutations in the ERCC2 gene on chromosome 19 locus q13.32
- COFS type 3 with strong photosensitivity, with mutations in the ERCC5 gene on chromosome 13 locus q33.1
- COFS type 4 with mutations in the ERCC1 gene on chromosome 19 locus q13.32
All four genes code for proteins in the same DNA repair reaction chain.
Clinical manifestations
Clinical criteria are:
- Microcephaly , often lissencephaly , bar agenesis
- Muscular hypotension , hyperreflexia , areflexia
- progressive degradation of psychomotor skills
- lack of language development
- Microphthalmia , anophthalmia , cataract , blepharophimosis
- Facial dysmorphism with a prominent root of the nose, microgenius , large ears
- Camptodactyly , flexion contracture of the elbows and knee joints
- Kyphosis , acetabular dysplasia , coxa valga
- Rocker bottom feet
- osteoporosis
- Death in infancy from infection
Photosensitivity, peripheral neuropathy , inner ear hearing loss and retinopathia pigmentosa can also occur.
diagnosis
The diagnosis can be suspected intrauterine by fine ultrasound and confirmed human genetically .
Differential diagnosis
The following must be distinguished from the differential diagnosis:
- Pena Shokeir Syndrome I.
- Fetopathies due to intrauterine infections
- Warburg micro syndrome
literature
- 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
- ↑ 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 .
- ↑ a b c d e f COFS syndrome. In: Orphanet (Rare Disease Database).
- ↑ 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 .
- ↑ 214150 Cerebrooculofacioskeletal syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Cerebrooculofacioskeletal syndrome 2. In: Online Mendelian Inheritance in Man . (English)
- ^ Cerebrooculofacioskeletal syndrome 3. In: Online Mendelian Inheritance in Man . (English)
- ^ Cerebrooculofacioskeletal syndrome 4. In: Online Mendelian Inheritance in Man . (English)
- ^ 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 .
