| 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. |
