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 "short stature" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aromatase deficiency
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dentin dysplasia
  • dentinogenesis imperfecta
  • fabry disease
  • hirschsprung disease
  • holt-oram syndrome
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • monosomy 21
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • proteus syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated