lethal congenital contracture syndrome 1
Findings
No curated finding names lethal congenital contracture syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
Definition from the Mondo Disease Ontology (MONDO:0009670), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Abnormal hip bone morphologyHPOHP:0003272
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Recurrent fracturesHPOHP:0002757
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Slender long boneHPOHP:0003100
- Frequent (30% to 79% of cases)
- Webbed neckHPOHP:0000465
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Occasional (5% to 29% of cases)
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.
- GLE1HGNC:4315
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: lethal congenital contracture syndrome 1
- Also called
- GLE1 lethal congenital contracture syndromeHerva diseaseLCCS1lethal congenital contracture syndrome caused by mutation in GLE1lethal congenital contracture syndrome type 1multiple contracture syndrome, Finnish type