Thymic-Renal-Anal-Lung dysplasia
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 | edit source]
It has been described in three girls born to a nonconsanguineous couple.
Inheritance[edit | edit source]
The mode of transmission is unknown but autosomal recessive inheritance was suggested.
Signs and symptoms[edit | edit source]
Two of the sisters also presented with imperforate anus and unilobed lung.
NIH genetic and rare disease info[edit source]
Thymic-Renal-Anal-Lung dysplasia is a rare disease.
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