Rare Diseases Symptoms Automatic Extraction

[Cohen syndrome. Personal case report and literature review].

[cohen syndrome]

We report the case of a fourteen years six months old girl with features of the Cohen-syndrome. The patient shows all main symptoms of this entity: characteristic craniofacial appearance, truncal obesity, mental retardation, microcephaly, short stature and limb anomalies.

Diseases presenting "microcephaly" symptom

  • 22q11.2 deletion syndrome
  • alpha-thalassemia
  • coats disease
  • cohen syndrome
  • congenital toxoplasmosis
  • dentin dysplasia
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • wolf-hirschhorn syndrome

This symptom has already been validated