lethal congenital contracture syndrome 6
Findings
No curated finding names lethal congenital contracture syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.
Definition from the Mondo Disease Ontology (MONDO:0014549), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
6 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.
- Absence of stomach bubble on fetal sonographyHPOHP:0010963
- 3 of 3 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 3 of 3 reported patients
- Congenital contractureHPOHP:0002803
- 3 of 3 reported patients
- Decreased fetal movementHPOHP:0001558
- 3 of 3 reported patients
- PolyhydramniosHPOHP:0001561
- 3 of 3 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 3 reported patients
Genes
1 gene
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.
- ZBTB42HGNC:32550
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
3 names
Resolves to: lethal congenital contracture syndrome 6
- Also called
- lethal congenital contracture syndrome caused by mutation in ZBTB42lethal congenital contracture syndrome type 6ZBTB42 lethal congenital contracture syndrome