The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

Am J Med Genet. 1990 Sep;37(1):109-13. doi: 10.1002/ajmg.1320370126.


A new familial cases of the Cohen syndrome in two brothers of one-half second-cousin parents is reported. Typical clinical manifestations of the syndrome; i.e., mental deficiency, hypotonia, characteristic facial appearance, long, narrow hands and feet with elongated fingers, and mottled retinae were present in both patients. Both patients also had leukopenia. Clinical manifestations of the Cohen syndrome in patients are highly variable, and mottled retina has been observed in 22 of 87 patients (25%). However, an association of mottled retina in patients with the Cohen syndrome is likely to be related to the families and ethnic groups. Among 19 familial cases, mottled retina was observed in all affected sibs from five families, but in 13 families none of the affected sibs had the mottled retina. All Finnish patients had the mottled retina, but this was noted in only one of 39 Jewish patients. Based on these data, we hypothesize that two alleles at the gene locus for the Cohen syndrome exhibit different clinical manifestations: one is a Finnish type with mottled retina, and the other is a Jewish type without retinal anomalies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Consanguinity
  • Face / abnormalities
  • Finland
  • Genes, Recessive
  • Growth Disorders / genetics
  • Humans
  • Jews
  • Limb Deformities, Congenital
  • Male
  • Retinal Degeneration / genetics*
  • Syndrome