Синдром афалангії-гемівертебрально-урогенітально-кишкового дисгенезу
ORPHA:1112· ICD-10 Q87.8· Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Визначення(English summary)
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal