Lethal Congenital Contracture Syndrome 8

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OMIM 57 616287 MedGen 42 C4225385 CN228896

MeSH 44 D001176 SNOMED-CT via HPO 69 258211005 349006 37280007 111246005 77016009 71457002 more

UniProtKB/Swiss-Prot : ⁷⁵ Lethal congenital contracture syndrome 8: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period.

MalaCards based summary : Lethal Congenital Contracture Syndrome 8, is also known as lccs8. An important gene associated with Lethal Congenital Contracture Syndrome 8 is ADCY6 (Adenylate Cyclase 6). Affiliated tissues include skeletal muscle and testes, and related phenotypes are areflexia and generalized hypotonia

OMIM : ⁵⁷ Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). (616287)

Clinical features from OMIM:

616287

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