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Ulbright-Hodes syndrome

Disease definition

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.


Classification level: Disorder
  • Synonym(s):
    • Renal dysplasia-limb defects syndrome
    • Renal dysplasia-mesomelia-radiohumeral fusion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 266910
  • UMLS: C1849438
  • MeSH: C537754
  • GARD: 5394
  • MedDRA: -
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