letaal congenitaal contractuursyndroom type 2 (aandoening)
letaal congenitaal contractuursyndroom type 2
arthrogryposis multiplex congenita van Israeli-Bedouin-type
arthrogryposis multiplex congenita van Israëlische Bedoeïenen-type
Lethal congenital contracture syndrome type 2
Multiple contracture syndrome Israeli-Bedouin type
Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early fetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterized by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder.
Associated morphologyatrophia
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
SNOMED CT to Orphanet simple map137776
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified