Daentl syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Daentl syndrome or Daentl-Townsend-Siegel syndrome is a very rare condition with blue sclera , renal impairment , thin skin and hydrocephalus .

Synonyms are:

• "Hydrocephalus blue sclera nephropathy"
• "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome"

The name refers to the author DL Daentl or the authors of the first observation from 1978.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The cause of the disease is not yet known.

Individual evidence

1. ↑ NCBI (Eng.)
2. ↑ DL Daentl, JJ Townsend, RC Siegel, JR Godman, CF Piel, DW Wara, RP Bachmann: Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies. In: Birth defects original article series. Volume 14, Number 6B, 1978, pp. 315-339, ISSN  0547-6844 . PMID 728573 .
3. ↑ Daentl syndrome. In: Orphanet (Rare Disease Database).

Web links

• Right diagnosis
• Daentl syndrome. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !