Verloes Van Maldergem Marneffe syndrome

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Verloes Van Maldergem Marneffe syndrome (also known as microspherophakia-metaphyseal dysplasia) is a very rare genetic disorder that affects the spine, bones near the joints, and the eyes. It is usually present from birth and lasts a lifetime.

What it involves
- Spine and bones: flattened or deformed vertebrae and spinal stenosis; delayed development; abnormal growth at the ends of long bones (epiphyses and metaphyses)
- Eyes: lens abnormalities such as microspherophakia, lens coloboma and dislocation, nearsightedness; risk of retinal detachment

How it’s inherited and caused
- Autosomal dominant: one mutated copy of the gene is enough to cause the condition
- Likely caused by mutations in the IRF6 gene
- Described in a father and his son, indicating family transmission

How common it is
- Very rare; at least 6 cases reported in medical literature

Prevention and outlook
- No known prevention
- Lifelong condition that requires ongoing medical care for the eye and skeletal issues