Rare Diseases Symptoms Automatic Extraction

Cohen syndrome with acanthosis nigricans and insulin resistance.

[cohen syndrome]

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, microcephalia, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Acanthosis nigricans is a cutaneous disorder characterized by hyperpigmentation and papillomatosis. Syndromal acanthosis nigricans may occasionally appear as a feature of several specific syndromes. We report a patient showing the typical characteristics of Cohen syndrome with acanthosis nigricans and hyperinsulinemia.

Diseases presenting "hypotonia" symptom

  • canavan disease
  • cohen syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome

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