Cohen syndrome

The Cohen syndrome is a very rare, not the cause of treatable specificity on the basis of a genetic mutation with unknown basic defect and autosomal recessive inheritance (see genetic disorder ). The specificity was in1973 by Michael Cohen et al. described in detail from a scientific viewpoint.

The diagnosis is not easy, so must be assumed that the Cohen syndrome is often not diagnosed as this but for example as Prader -Willi syndrome. Mutations in the COH1 gene, which is located in the chromosomal region 8q22, were described in 2003 as the cause of the Cohen syndrome.

Symptoms

  • Mild cognitive disability
  • Obesity ( obesity)
  • Joint laxity ( hyperextension )
  • Muscular hypotonia (muscle weakness)
  • Mandibular retrognathia / micrognathia ( a relatively small lower jaw that is often shifted a bit to the rear)
  • Large teeth ( Makrodontie / especially the incisors )
  • Short philtrum ( upper lip philtrum = part of the surface between the nose and mouth with the small indentation )
  • Microcephaly ( a comparatively small head )
  • Long palpebral fissures ( often the Lidachse down the outside slightly skewed )
  • Of outstanding mouth
  • Prominent nasal root
  • Prominent / hypertrophic tongue
  • Prominent midface
  • Unique features of the humero - ulnar joint ( ie the Scharnier-/Walzengelenks at the elbow )
  • Clinodactyly of the fifth finger ( the little finger is slightly bent in the direction of ring finger )
  • Clubfoot / Foldaway Base
  • Lordosis (convex bending of the spine / hollow back)
  • Scoliosis ( lateral curvature of the spine)
  • Unique features of the heart valve between the left atrium and left ventricle ( mitral valve )
  • Sensorineural hearing loss
  • Iris coloboma ( congenital gap in the iris / iris of the eye )
  • Myopia ( nearsightedness)
  • Nystagmus (involuntary eye movements, " nystagmus " )
  • Optic atrophy ( optic nerve damage )
  • Retinitis pigmentosa ( collective name for certain hereditary eye diseases that damage the retina / retinal )
  • Retinoschisis / Retinakolobom ( retinal splitting)
  • Funnel Chest
  • Epilepsy
Prader–Willi syndrome Extension (kinesiology) Eyelid Iris (anatomy)
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