obsolete_hypomyelination neuropathy-arthrogryposis syndrome true Orphanet:2680 Boylan-dew syndrome Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. 3.88.0 Replaced by Mondo term MONDO_0700428 which has the same label. Use: http://purl.obolibrary.org/obo/MONDO_0700428 Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. http://purl.obolibrary.org/obo/MONDO_0700428 UMLS:CN202399