Wiedemann-Steiner syndrome
hereditary disease
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Summary
Wiedemann-Steiner syndrome is a rare disease[1]. It draws 576 Wikipedia views per month (rare disease category, ranking #92 of 627).[2]
Key Facts
- Instance of: class of disease[3]
- Named after: Hans-Rudolf Wiedemann[4]
- Subclass of: multiple congenital anomalies/dysmorphic syndrome-intellectual disability[5], genetic syndromic intellectual disability[6], developmental defect during embryogenesis[7]
- Symptoms and signs: hypertrichosis[8], failure to thrive[9]
- Prevalence: 0.000001[10]
- Genetic association: KMT2A[11]
- Age of onset: childhood onset[12], infantile onset[13], neonatal onset[14]
- Exact match: http://www.orpha.net/ORDO/Orphanet_319182[15]
- Has phenotype: nose, anomalous shape of[16], global developmental delay[17], Q141815383[18], childhood onset[19], pectus excavatum[20], atrial heart septal defect[21], patent ductus arteriosus[22], scoliosis[23]
- P14914: D319182[24]
Why It Matters
Wiedemann-Steiner syndrome has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[25] It is known by 13 alternative names across languages and contexts.[26]