Hereditary sensory and autonomic neuropathy type 6
Synonyms: Familial dysautonomia with contractures | HSAN6 | Hereditary sensory and autonomic neuropathy type VI
A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy variable psychomotor retardation markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes altered deep tendon reflexes and dysautonomic symptoms including hypohidrosis and heat intolerance chronic diarrhea pupillary abnormalities or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable with severe cases being potentially lethal in infancy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Hereditary sensory and autonomic neuropathy type 6?
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