Hereditary sensory and autonomic neuropathy type 7
Synonyms: CIP with hyperhidrosis and gastrointestinal dysfunction | Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction | HSAN with hyperhidrosis and gastrointestinal dysfunction | HSAN7 | Hereditary sensory and autonomic neuropathy type VII | Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
A rare genetic periphery neuropathy characterized by a congenital insensitivity to pain muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement self-mutilations skin ulcers poor wound healing painless fractures hyperhidrosis abdominal discomfort diarrhea and/or constipation. Cognitive development is normal.
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 September 2023.
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Hereditary sensory and autonomic neuropathy type 7?
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