Rare Diseases Symptoms Automatic Extraction

The Cohen syndrome: report of a case.

[cohen syndrome]

We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive manner of inheritance was suggested by the pedigree.

Diseases presenting "hypotonia" symptom

  • canavan disease
  • cohen syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom