Hydrolethalus syndrome

Last revised by David Luong on 24 Jun 2021

Citation, DOI, disclosures and article data

Citation:

Radswiki T, Luong D, Shetty A, et al. Hydrolethalus syndrome. Reference article, Radiopaedia.org (Accessed on 20 Apr 2024) https://doi.org/10.53347/rID-14657

DOI:

https://doi.org/10.53347/rID-14657

Permalink:

https://radiopaedia.org/articles/14657

rID:

14657

Article created:

18 Aug 2011, The Radswiki ◉

Disclosures:

At the time the article was created The Radswiki had no recorded disclosures.

View The Radswiki's current disclosures

Last revised:

24 Jun 2021, David Luong ◉

Disclosures:

At the time the article was last revised David Luong had no recorded disclosures.

View David Luong's current disclosures

Revisions:

3 times, by 3 contributors - see full revision history and disclosures

Systems:

Obstetrics, Gynaecology

Sections:

Syndromes

Tags:

cases, syndrome

Synonyms:

Hydrolethalus syndrome
Salonen-Herva-Norio syndrome

Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of the fetus which include:

midline malformations
- cleft lip + / - palate
CNS malformations
- fetal hydrocephalus
- agenesis of the corpus callosum
- Dandy-Walker malformation
- absent midline structures of the brain
micrognathia / microgenia
fetal limb anomalies
- polydactyly (post-axial in the hands and pre-axial in the feet)
- club feet

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 subgroup, the incidence is even much more rarer.