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Acro-renal-mandibular syndrome

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

Summary

Acrorenal mandibular syndrome is characterized by the combination of unusual limb deficiencies (split feet or/and hands), renal anomalies (polycystic kidneys, renal agenesis, etc.), mandibular hypoplasia and uterine anomalies in females. It is an extremely rare disorder with only seven cases described so far. Two of the families described had consanguineous parents and several siblings presenting with the syndrome, suggesting an autosomal recessive mode of inheritance. Although the severity of signs varies from case to case, prognosis remains very poor as all the reported patients died around birth. Prenatal diagnosis of renal and/or limb anomalies is possible by ultrasonography.


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