Orphanet: Thomas syndrome
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Thomas syndrome

Disease definition

Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.

ORPHA:3316

Classification level: Disorder
  • Synonym(s):
    • Potter sequence-cleft lip/palate-cardiopathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931225
  • MeSH: C536514
  • GARD: 5175
  • MedDRA: -

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

Additional information

Further information on this disease

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