Rare Diseases Symptoms Automatic Extraction

[The Cohen syndrome].

[cohen syndrome]

A girl with Cohen syndrome is presented. The diagnosis has been established on the basis of the characteristic face appearance with hypoplastic maxilla and mandible, open mouth, prominent maxillary central incisors, as well as characteristic appearance of extremities (narrow hands and feet), childhood obesity, hypotonia, and mental insufficiency. The girls also has the so-called "mottled retina". The attempts of weight reduction have been unsuccessful so far.

Diseases presenting "obesity" symptom

  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cushing syndrome
  • cystinuria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • kabuki syndrome
  • monosomy 21
  • phenylketonuria
  • primary hyperoxaluria type 1
  • sneddon syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated