Story perspectives

Urgent Need for HCS Awareness and Testing in Bangladesh

11/6/2025

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Summary

Story summary

Hajdu–Cheney syndrome (HCS) is a rare genetic disorder caused by truncating NOTCH2 variants.
It is characterized by acro-osteolysis and osteoporosis.
Management remains supportive, including genetic counseling and early recognition of symptoms.
In Bangladesh, awareness and access to genetic testing are limited, hindering diagnosis.
Globally, HCS is rare, with Bangladesh cases scarce, underscoring the need for diagnostics and registries in low-resource settings.

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Story summary

Hajdu–Cheney syndrome (HCS) is a rare genetic disorder caused by truncating NOTCH2 variants.
It is characterized by acro-osteolysis and osteoporosis.
Management remains supportive, including genetic counseling and early recognition of symptoms.
In Bangladesh, awareness and access to genetic testing are limited, hindering diagnosis.
Globally, HCS is rare, with Bangladesh cases scarce, underscoring the need for diagnostics and registries in low-resource settings.