Lethal congenital contracture syndrome type 1

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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(5.0%)		 28657126
 A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen JS, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J.
Clin Genet. 2018;93(1):173-177.
Respiratory failure
GLE1
p|INS|144_,145|T,E,PFQ p|SUB|I|684|T;RS#:121434409 p|SUB|R|569|H;RS#:121434407 p|SUB|V|617|M;RS#:121434408 rs121434409
Arthrogryposis Base Sequence Fatal Outcome Females Genetic Predisposition to Disease Homo sapiens Homozygote Infant Male Missense Mutation Motor Neuron Disease Nucleocytoplasmic Transport Proteins Sibling
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0002089 Pulmonary hypoplasia Very frequent (99-80%)
HP:0003202 Skeletal muscle atrophy Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0002757 Recurrent fractures Frequent (79-30%)
HP:0003100 Slender long bone Frequent (79-30%)
HP:0003103 Abnormal cortical bone morphology Frequent (79-30%)
HP:0009775 Amniotic constriction ring Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002878 Respiratory failure 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GLE1 GLE1 RNA export mediator 2733