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Lethal congenital contractures syndrome
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(LCCS, acronym for Lethal Congenital Contractures Syndrome)
These are the lethal forms of arthrogryposis (see this term). The contractures of the joints of the limbs and/or the spine limit the extension or flexion of the joints concerned and usually lead to rapid death by respiratory failure.
From a genetic point of view, here are the different identified types:
- Type 1 or Finnish (LCCS1) [MIM 253 310]: autosomal recessive transmission of a mutation of the GLE1 gene (9q34.11)
- Type 2 (LCCS2) [MIM 607 598] or Israeli Beduine type A: autosomal recessive transmission of a mutation of the ERBB3 gene (12q13.2); micrognathia, craniofacial malformations (palatine cleft), cardiac malformation, megabladder
- Type 3 (LCCS3) [MIM 611 369] or Israeli Beduine type B: autosomal recessive transmission of a mutation of the PIP5K1C gene (19p13.3). Similar to type 2 but without megabladder
- Type 4 [MIM 614 915] autosomal recessive transmission of a mutation of the MYBPC1 gene (12q23.2)
- Type 5 [MIM 615 368] autosomal recessive transmission of a mutation of the DNM2 gene (19.13.2); some mutations of the same gene may cause an autosomal dominant form of the Charcot-Marie-Tooth disease or a centronuclear myopathy.
- Type 6 [MIM 616 248] autosomal recessive transmission of a mutation of the ZBTB42 gene (14q32.33); polyhydramnios
- Type 7 [MIM 616 286] autosomal recessive transmission of a mutation of the CNTNAP1 gene (17q21.2)
- Type 8 [MIM 616 287] autosomal recessive transmission of a mutation of the ADCY6 gene (12q13.12)
- Type 9 [MIM 616 503] autosomal recessive transmission of a mutation of the AGGRG6 gene (6q24.2)
- Type 10 [MIM 617 022] autosomal recessive transmission of a mutation of the NEK9 gene (14q24.3)
- Type 11 [MIM 617 194] autosomal recessive transmission of a mutation of the GLDN gene (15q21.2)
Anesthetic implications:
respiratory failure, difficult ventilation and intubation, difficult venous access
References :
Updated: April 2023