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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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Related Experiment Video

Updated: Apr 19, 2026

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
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Rabson-mendenhall syndrome.

Iffat Hassan1, Hinah Altaf1, Atiya Yaseen1

  • 1Department of Dermatology, STD and Leprosy SMHS Hospital, Government Medical College, Srinagar, Jammu and Kashmir, India.

Indian Journal of Dermatology
|December 9, 2014
PubMed
Summary

Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder. This case report details a 13-year-old girl presenting with physical features consistent with RMS, specifically acanthosis nigricans.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Rabson-Mendenhall syndrome (RMS) is an exceptionally rare genetic disorder.
  • RMS presents with a distinctive constellation of symptoms including growth retardation, dysmorphisms, and metabolic abnormalities.

Purpose of the Study:

  • To describe a case of a 13-year-old female exhibiting physical characteristics of Rabson-Mendenhall syndrome.
  • To highlight the presenting symptom of acanthosis nigricans in the context of RMS.

Main Methods:

  • Clinical case presentation.
  • Review of physical examination findings.

Main Results:

  • The patient, a 13-year-old girl, displayed physical features indicative of RMS.
Keywords:
Acanthosis nigricansRabson-Mendenhall syndromehirsutismhyperinsulinemia

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  • Acanthosis nigricans was a prominent presenting sign.

    • Conclusions:

    • This case underscores the phenotypic variability and diagnostic considerations for rare genetic disorders like RMS.
    • Early recognition of characteristic features such as acanthosis nigricans is crucial for timely diagnosis and management of RMS.