Orphanet: Acro renal mandibular syndrome

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Acro-renal-mandibular syndrome

Disease definition

A very 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.


Classification level: Disorder
  • Synonym(s):
    • Split hand/split foot-mandibular hypoplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 200980
  • UMLS: C1860166
  • MeSH: C535665
  • GARD: 480
  • MedDRA: -
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