Hypomyelination neuropathy-arthrogryposis 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hypomyelination neuropathy-arthrogryposis syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
ZC4H2 Research Foundation
Our Mission: The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate through research, awareness, and support. For more information, please visit https://www.zc4h2foundation.org.
Clinical Trials
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