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Acro-renal-mandibular syndrome

Synonym(s) Split hand/split foot-mandibular hypoplasia syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q87.8
  • C1860166
  • C535665
MedDRA -


Disease definition

Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis (see these terms), polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

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