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Low isolated anorectal malformation
Disease definition
Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.
ORPHA:171215
Classification level: Disorder- Synonym(s): -
- Prevalence: -
- Inheritance: -
- Age of onset: -
- ICD-10: Q42.2 Q42.3
- OMIM: -
- UMLS: C0345218
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2017, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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