lethal congenital contracture syndrome 1
MeSH: C537194ORPHA: 1486
Overview
lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with lethal congenital contracture syndrome 1, sourced from HPO and Orphanet clinical annotations.
HypertelorismMicrognathiaPulmonary hypoplasiaSkeletal muscle atrophyAbnormal hip bone morphologyShort statureWebbed neckShort neckAbnormal rib morphologyLimitation of joint mobilityPolyhydramniosRecurrent fracturesSlender long boneAbnormal cortical bone morphologyAmniotic constriction ringAbnormality of the elbowAbnormal form of the vertebral bodiesPosteriorly rotated ears
Classification & Codes
MeSH Code
C537194Orphanet Code
ORPHA:1486lethal congenital contracture syndrome 1
| MeSH | C537194 |
| Orphanet | ORPHA:1486 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO