Verloes Van Maldergem Marneffe syndrome
(Redirected from Microspherophakia metaphyseal dysplasia)
| Verloes Van Maldergem Marneffe syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | ocular, skeletal, and developmental abnormalities |
| Complications | impaired vision, low self esteem |
| Usual onset | birth |
| Duration | life-long |
| Causes | Autosomal dominant genetic mutation |
| Prevention | none |
| Frequency | very rare, only 2 cases have been reported in medical literature. |
Verloes Van Maldergem Marneffe syndrome, also known as microspherophakia-metaphyseal dysplasia is a very rare genetic disorder which is characterized by flattened and deformed vertebrae, developmental delay, dysplasia of the epiphyses and metaphyses, lens coloboma and dislocation, microspherophakia, nearsightedness, retinal detachment, and spinal stenosis.[1][2] It has been described in a father and his son, and is thought to be inherited in an autosomal dominant manner.[3] It's thought to be caused by mutations in the IRF6 gene.[4]
References
[edit]- ^ "Verloes Van Maldergem Marneffe syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Sindrome di Verloes Van Maldergem Marneffe". www.orpha.net (in Spanish). Retrieved 2022-05-15.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Verloes Van Maldergem Marneffe Syndrome". DoveMed. Retrieved 2022-05-15.
- ^ "Verloes-van maldergem-de marneffe syndrome- Clinical cases, top doctors". curofy.com. Retrieved 2022-05-15.
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