Daentl Townsend Siegel syndrome

Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978.[1] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome".[2]

Daentl Townsend Siegel syndrome
Other namesHydrocephalus-blue sclerae-nephropathy syndrome
One of the symptoms, hydrocephalus, seen on a CT scan of the brain.

References
  1. Daentl, D. L.; Townsend, J. J.; Siegel, R. C.; Godman, J. R.; Piel, C. F.; Wara, D. W.; Bachmann, R. P. (1978). "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies". Birth Defects Original Article Series. 14 (6B): 315–339. PMID 728573.
  2. "Daentl Towsend Siegel syndrome (Supplementary Concept)". Medical Subject Headings. Retrieved 2012-08-21.
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