Arthrogryposis-anterior horn cell disease syndrome
Synonyms: AAHD | Vuopala disease
A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies such as low-set ears hypoplastic jaw and short neck as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay markedly decreased muscle bulk dystonic and involuntary movements ataxia and poor speech.
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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Arthrogryposis-anterior horn cell disease 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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