hydrolethalus syndrome
Findings
No curated finding names hydrolethalus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0006037), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent septum pellucidumHPOHP:0001331
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Very frequent (80% to 99% of cases)
- Premature birthHPOHP:0001622
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
- Abnormality of the sense of smellHPOHP:0004408
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
Show the remaining 16
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Gingival cleftHPOHP:0030690
- Frequent (30% to 79% of cases)
- LaryngomalaciaHPOHP:0001601
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)