Cohen Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Cohen syndrome is a very rare congenital disease with the main features microcephaly , facial dysmorphia , hypotonia , mental retardation , short-sightedness , Retinadystrophie , neutropenia and truncal obesity .

Synonyms : COH1; Pepper syndrome; Cervenka syndrome

The peculiarity was first described in detail in 1973 by Michael Cohen and others from a scientific point of view.

The name "Pepper Syndrome" refers to the surname of an affected family described in 1984.

distribution

The frequency is not known; about 200 people have been reported to be affected. Inheritance is autosomal - recessive .

The diagnosis is not very easy, so it must be assumed that Cohen syndrome is often not diagnosed as this, but rather as Prader-Willi syndrome , for example .

root cause

The disease is based on mutations in the VPS13B (or COH1 ) gene on chromosome 8 locus q22.2.

Clinical manifestations

Microcephaly , mild cognitive disability , epilepsy
Obesity
muscular hypotension (muscle weakness)
Facial abnormalities: large teeth (macrodontia / especially the incisors), high / narrow palate, mandibular retrognathia / micrognathia , short philtrum , long eyelid fissures (the eyelid axis is often slightly sloping downwards), open mouth, prominent nasal root, prominent / hypertrophic tongue , prominent midface
Skeletal abnormalities: joint hypermobility ( hyperextension ), peculiarities in the area of the humero-ulnar joint (i.e. the hinge / roller joint in the elbow), clinodactyly of the 5th finger, clubfoot / articulated foot , lordosis , scoliosis , funnel chest
Special features in the area of the heart valve between the left atrium and the left ventricle ( mitral valve )
Inner ear hearing loss
Eye abnormalities: iris coloboma , myopia , nystagmus , optic atrophy , retinitis pigmentosa , retinoschisis / retinal coloboma

Differential diagnosis

The MORM syndrome and Laurence-Moon-Biedl-Bardet syndrome are to be distinguished .

literature

C. Yang, M. Hou, Y. Li, D. Sun, Y. Guo, P. Liu, Y. Liu, J. Song, N. Zhang, W. Wei, Z. Chen: Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. In: International journal of developmental neuroscience: the official journal of the International Society for Developmental Neuroscience. [Electronic publication before printing] May 2018, doi : 10.1016 / j.ijdevneu.2018.05.004 , PMID 29758347 .
S. Douzgou, MB Petersen: Clinical variability of genetic isolates of Cohen syndrome. In: Clinical genetics. Vol. 79, No. 6, June 2011, pp. 501-506, doi : 10.1111 / j.1399-0004.2011.01669.x , PMID 21418059 (Review).
S. El Chehadeh, B. Aral, N. Gigot, C. Thauvin-Robinet, A. Donzel, MA Delrue, D. Lacombe, A. David, L. Burglen, N. Philip, A. Moncla, V. Cormier- Daire, M. Rio, P. Edery, A. Verloes, D. Bonneau, A. Afenjar, A. Jacquette, D. Heron, P. Sarda, L. Pinson, B. Doray, J. Vigneron, B. Leheup, AM Frances-Guidet, G. Dienne, M. Holder, A. Masurel-Paulet, F. Huet, JR Teyssier, L. Faivre: Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. In: Journal of medical genetics. Vol. 47, No. 8, August 2010, pp. 549-553, doi : 10.1136 / jmg.2009.075028 , PMID 20656880 .
S. Kivitie-Kallio, R. Norio: Cohen syndrome: essential features, natural history, and heterogeneity. In: American journal of medical genetics. Vol. 102, No. 2, August 2001, pp. 125-135, PMID 11477603 (review).
Witkowski, Prokop, Ullrich, Thiel: Lexicon of Syndromes and Malformations. Causes, genetics, risks. 7th edition. Springer, Berlin / New York et al. 2003, ISBN 3-540-44305-3 .
J. Kolehmainen, GC Black, A. Saarinen, K. Chandler, J. Clayton-Smith, AL Träskelin, R. Perveen, S. Kivitie-Kallio, R. Norio, M. Warburg, JP Fryns, A. de la Chapelle , AE Lehesjoki: Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. In: American Journal of Human Genetics . Vol. 72, No. 6, June 2003, pp. 1359-1369, PMID 12730828 , PMC 1180298 (free full text).
C. García Ballesta, L. Pérez Lajarín, O. Cortés Lillo: Cohen Syndrome. In: Orphanet encyclopedia. 2004. PDF

Individual evidence

↑ ^a ^b Cohen syndrome. In: Orphanet (Rare Disease Database).
↑ M. Cohen, B. Hall, D. Smith, B. Graham, K. Lampert: A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. In: J Pediatr . 1973; 83, pp. 280-284.
↑ Norio, R., Raitta, C., Lindahl, E. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin. Genet. 25: 1-14, 1984. [PubMed: 6705238, related citations] [Full Text]
^ Cohen syndrome. In: Online Mendelian Inheritance in Man . (English)

Web links

[Orpha-1] Cohen syndrome. In: Orphanet (Rare Disease Database).

[2] M. Cohen, B. Hall, D. Smith, B. Graham, K. Lampert: A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. In: J Pediatr . 1973; 83, pp. 280-284.

[3] Norio, R., Raitta, C., Lindahl, E. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin. Genet. 25: 1-14, 1984. [PubMed: 6705238, related citations] [Full Text]

[4] Cohen syndrome. In: Online Mendelian Inheritance in Man . (English)