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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.

ORPHA:3404

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: -

  A summary on this disease is available in Deutsch (2006) Français (2006) Italiano (2006) Nederlands (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.