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Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up
Hessa Al-Kandari1, Dalia Al-Abdulrazzaq2, Fahed Al-Jaser3
1Department of Population Health, Dasman Diabetes Institute, Kuwait; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Kuwait.
Insights
Rabson-Mendenhall Syndrome (RMS) was diagnosed in two children in Kuwait. Genetic testing identified a homozygous missense variant in the insulin receptor gene, confirming the diagnosis and highlighting the need for early detection.
Area of Science:
- Endocrinology
- Genetics
- Rare Diseases
Background:
- Rabson-Mendenhall Syndrome (RMS) is a rare genetic disorder characterized by severe insulin resistance, distinctive facial features, and other abnormalities.
- Early diagnosis and management are crucial for improving outcomes in patients with RMS.
Purpose of the Study:
- To report the first cases of Rabson-Mendenhall Syndrome diagnosed in Kuwait.
- To highlight the clinical presentation and genetic findings in siblings with RMS.
- To emphasize the importance of early recognition and genetic testing for RMS.
Main Methods:
- Clinical evaluation of two siblings presenting with features suggestive of RMS, including dysmorphic features, hyperkeratosis, hypertrichosis, acanthosis nigricans, diabetes, and nephrocalcinosis.
- Genetic testing to identify the underlying mutation.
- Review of the literature regarding RMS diagnosis and management.
Main Results:
- Both affected siblings were found to be homozygous for the p.Arg141Trp missense variant in the alpha subunit of the insulin receptor gene.
- The clinical presentation included severe insulin resistance, characteristic dysmorphic features, and diabetes-related complications.
Conclusions:
- These cases underscore the importance of clinical awareness for RMS and prompt referral for genetic testing in patients with suggestive features.
- Genetic confirmation of RMS is essential for accurate diagnosis, genetic counseling, and understanding the prognosis.
- Despite challenges in treatment and poor prognosis, early diagnosis can facilitate better management of diabetes-related complications.
Aim:
To report on Rabson-Mendenhall Syndrome (RMS) diagnosed in Kuwait.
Methods:
A toddler (18 months old) was referred with high plasma insulin and dysmorphic features suggestive of RMS including coarse facial features with globular nose, full lips and furrowed tongue. His skin was hyperkeratotic with hypertrichosis. His sister (aged 13.5 years) was diagnosed with diabetes at 9 years of age and treated with metformin and insulin. She presented with similar dysmorphic features, extensive acanthosis nigricans, dental abnormalities and bilateral nephrocalcinosis. The children were born to non-consanguineous parents. Blood samples were sent for genetic testing in a reference laboratory.
Results:
Both children were found to be homozygous for the p.Arg141Trp missense variant (p.Arg114Trp if numbered according to pro-receptor sequence) in the alpha subunit of the insulin receptor.
Conclusions:
These cases demonstrate the importance of raising awareness among healthcare professionals to ensure rapid referral of patients with characteristic physical features of RMS and severe insulin resistance for genetic testing. Unfortunately, treatment of RMS patients remains a challenge with poor prognosis and short life expectancy usually caused by diabetes-related complications. Genetic testing confirms the diagnosis and allows informed genetic counseling of parents considering future pregnancies.
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