Arthrogryposis-anterior horn cell disease syndrome

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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.

Synonyms: Vuopala disease AAHD

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Term information

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OMIM:611890

UMLS:C2678471

ICD-10:Q68.8

notation

ORPHA:53696