Синдром Альпорта-інтелектуальна недостатність-гіпоплазія середини обличчя-еліптоцитоз
ORPHA:86818· ICD-10 Q87.8· Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Визначення(English summary)
A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Antenatal, Infancy, Neonatal