White matter hypoplasia-corpus callosum agenesis-intellectual disability syndromeAlso known as: Curatolo-Cilio-Pessagno syndrome
- OrphaNet: ORPHA:3207
- UMLS: C2931292
A rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe.
Many rare diseases are genetic (caused by change in DNA), which change can be inherited, spontaneous, or epigenetic. Since there are many genes (~20,000), there are many possible defects.
To date, about 7000 Rare Diseases have been identified.