Hydrolethalus syndrome

Dr Aditya Shetty and Radswiki et al.

Hydrolethalus syndrome is a rare lethal genetic syndrome characterised by multiple developmental defects of fetus which include 

Epidemiology

The estimated incidence is at approximately 1 in 20000 births. There is often ancestral links to an area in eastern Finland where the syndrome was described, for the first time, in 1981. Outside of this sub group, the incidence is even much more rarer.

Pathology

Genetics

An autosomal recessive inheritance pattern is often suspected and it is thought to be caused by a missense mutation in a novel gene HYLS1.

Associations
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Article Information

rID: 14657
Section: Syndromes
Synonyms or Alternate Spellings:
  • Hydrolethalus syndrome
  • Salonen-Herva-Norio syndrome

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