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Акро-нирково-щелепний синдром

ORPHA:958· ICD-10 Q87.8· Acro-renal-mandibular syndrome

Визначення(English summary)

A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Antenatal, Neonatal