Ulbright-Hodes syndrome

From BugSigDB


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.
Aliases
  • Renal dysplasia - limb defects
  • Renal dysplasia - mesomelia - radiohumeral fusion
  • renal dysplasia limb defects syndrome
  • renal dysplasia, mesomelia, and radiohumeral fusion
  • renal dysplasia-limb defects syndrome
  • renal dysplasia-mesomelia-radiohumeral fusion syndrome
  • RL syndrome
  • Ulbright Hodes syndrome
  • Ulbright-Hodes syndrome