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 "micrognathia" symptom

  • 22q11.2 deletion syndrome
  • alpha-thalassemia
  • cadasil
  • classical phenylketonuria
  • cohen syndrome
  • holt-oram syndrome
  • kabuki syndrome
  • monosomy 21
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated