Sclerosteosis
What is Sclerosteosis?
Sclerosteosis is a rare autosomal recessive genetic disorder, a debilitating condition that irrevocably alters the lives of the people who have it, as well as their families.
The clinical features are uncontrolled bone formation that leads to thickening and sclerosis (hardening) of the skeleton, including the skull, resulting in widening of the jaw, distortion of the face, gigantism and entrapment of the cranial nerves as well as spinal nerves with consequential recurring facial paralysis, hearing loss, loss of smell and severe headache and back pain.
The most dangerous feature is raised cranial pressure that can lead to sudden death due to impaction of the brain stem in the foramen magnum. Immense effort has been done by the late Dr Herman Hamersma (ENT), and currently by Dr Louis Hofmeyr (ENT), Dr Jacques du Plessis (Neurosurgeon) and Dr Tommy Bingle (Neurosurgeon) to treat the patient symptomatically (to correct the effects of Sclerosteosis surgically), but little effort has been made to find a possible preventative treatment or cure.
Reported cases
Living a successful life with sclerosteosis
Living with a rare condition like sclerosteosis presents immense challenges—but it does not define the boundaries of one’s potential.
Meet Heinrich and Zulè, two extraordinary athletes who continue to defy expectations on the field. Despite the physical obstacles posed by the disease, they’ve each excelled in sport, earning accolades and inspiring others with their strength and spirit. And then there is Dr Timothy, a brilliant academic whose groundbreaking research is shaping the future. His achievements remind us that the mind knows no limits—even when the body is tested.
Their stories are powerful reminders that life with sclerosteosis can still be rich, fulfilling, and successful. At the heart of our mission is the belief that every person, regardless of their diagnosis, deserves the chance to thrive.
