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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