Rare Diseases Symptoms Automatic Extraction

Agenesis of the corpus callosum, camptodactyly and obesity.

[cohen syndrome]

We report a 16-year-old girl with agenesis of the corpus callosum, congenital heart disease (ventricular septal defect and abnormal venous return), 5th digit camptodactyly and obesity, born to first cousin Italian parents. Although this child shares features with acrocallosal syndrome and Camera-Marugo-Cohen syndrome, we think that this combination of anomalies allows the delineation of a new MCA/MR syndrome, possibly recessively inherited.

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