Синдром тетраамелії - множинних вад розвитку
ORPHA:3301· ICD-10 Q87.8· Tetraamelia-multiple malformations syndrome
Визначення(English summary)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive, X-linked recessive
- Вік початку
- Antenatal, Infancy, Neonatal