Directory of Lethal Congenital Contracture Syndrome Resources

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The lethal congenital contracture syndrome (LCCS, Herva disease) is an autosomal recessive syndrome that causes prenatal death of affected fetuses before the 32nd gestational week. Prenatal diagnosis is based on fetal akinesia, which is detectable in ultrasonography after the 14th gestational week. The akinesia develops due to degenaration of anterior horn motor neurons, which leads to multiple contractures of the joints. The other key features are slow growth, hydrops in early pregnancy and dysmorphic features.

Resources in This Category

• Assignment of the Disease Locus for LCCS to a Restricted Region of Chromosome 9q34

  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377309/?tool=pubmed
  Full text of article by Mäkelä-Bengs et al that describes the location of the Herva-Syndrome-causing defect using a genome scan using five affected individuals.

• Online Mendelian Inheritance in Man

  http://omim.org/entry/253310
  Description of the state of knowledge of Lethal Congenital Contracture Syndrome (Herva Syndrome), and references thereto.

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