Thymic-Renal-Anal-Lung dysplasia

From WikiMD's Medical Encyclopedia

Other Names: Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)

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

Epidemiology[edit]

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

Inheritance[edit]

Autosomal recessive inheritance, a 25% chance

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

Signs and symptoms[edit]

Two of the sisters also presented with imperforate anus and unilobed lung.

NIH genetic and rare disease info[edit]

Thymic-Renal-Anal-Lung dysplasia is a rare disease.

Rare and genetic diseases

Rare diseases - Thymic-Renal-Anal-Lung dysplasia

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