This syndrome is recognized by the presence of acanthosis nigricans (dark, thickened patches of skin), insulin resistance (a condition where the body does not use insulin properly), severe muscle cramps, and acral hypertrophy (enlargement of the distal parts of the body). The condition is noted to combine multiple clinical features that affect both the skin and muscles, making its presentation unique among rare disorders. While the full spectrum of this syndrome is still being understood, its description helps identify people who have a combination of these features. A number of respected medical sources, including OMIM, Orphanet, and GARD, reference this syndrome to aid in further research and understanding of its clinical characteristics.

People with this condition typically have acanthosis nigricans, which are darkened, thickened areas of skin. They also experience insulin resistance, severe muscle cramps, and acral hypertrophy, meaning there is an enlargement of the hands, feet, or other distal parts. These symptoms together form the characteristic presentation of the syndrome.

Information about causes is currently limited for this condition.