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Acro-renal-mandibular syndrome

ORPHA958
Synonym(s) Split hand/split foot - mandibular hypoplasia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
Antenatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C1860166
MeSH
  • C535665
MedDRA -

Summary

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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