lethal congenital contracture syndrome 11
Findings
No curated finding names lethal congenital contracture syndrome 11 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 GLDN gene.
Definition from the Mondo Disease Ontology (MONDO:0014965), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Third trimester onset
HPO, annotations 2026-09-02
Features
12 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.
- Decreased fetal movementHPOHP:0001558
- 6 of 6 reported patients
- PolyhydramniosHPOHP:0001561
- 6 of 6 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 5 of 6 reported patients
- Flexion contracture of fingerHPOHP:0012785
- 2 of 6 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 6 reported patients
- CamptodactylyHPOHP:0012385
- 1 of 6 reported patients
- Distal arthrogryposisHPOHP:0005684
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.
- GLDNHGNC:29514
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: lethal congenital contracture syndrome 11
- Also called
- GLDN lethal congenital contracture syndromeLCCS11lethal congenital contracture syndrome 11; LCCS11lethal congenital contracture syndrome caused by mutation in GLDNlethal congenital contracture syndrome type 11