lethal congenital contracture syndrome 8
Findings
No curated finding names lethal congenital contracture syndrome 8 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 ADCY6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014570), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death · Third trimester onset
HPO, annotations 2026-09-02
Features
13 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.
- AreflexiaHPOHP:0001284
- 3 of 3 reported patients
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Distal arthrogryposisHPOHP:0005684
- 2 of 2 reported patients
- Distal sensory impairmentHPOHP:0002936
- 1 of 1 reported patient
- Facial diplegiaHPOHP:0001349
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
Show the remaining 1
- PolyhydramniosHPOHP:0001561
- 0 of 2 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.
- ADCY6HGNC:237
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: lethal congenital contracture syndrome 8
- Also called
- ADCY6 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in ADCY6lethal congenital contracture syndrome type 8