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Thymic-renal-anal-lung dysplasia

Disease definition

This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.

ORPHA:3326

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 274265
  • UMLS: C1848812
  • MeSH: C536907
  • GARD: 5202
  • MedDRA: -

Summary

Epidemiology

It has been described in three girls born to a nonconsanguineous couple.

Genetic counseling

The mode of transmission is unknown but autosomal recessive inheritance was suggested.

- Last update: September 2007

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.