lethal congenital contracture syndrome 3
Findings
No curated finding names lethal congenital contracture syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.
Definition from the Mondo Disease Ontology (MONDO:0012656), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death
HPO, annotations 2026-09-02
Features
3 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Respiratory insufficiencyHPOHP:0002093
- Skeletal muscle atrophyHPOHP:0003202
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.
- PIP5K1CHGNC:8996
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2015
- MYBPC1HGNC:7549
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: lethal congenital contracture syndrome 3
- Also called
- LCCS3lethal congenital contractural syndrome 3lethal congenital contracture syndrome caused by mutation in PIP5K1Clethal congenital contracture syndrome type 3PIP5K1C lethal congenital contracture syndrome