Smith-Lemli-Opitz syndrome
an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase
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Smith-Lemli-Opitz syndrome
Summary
Smith-Lemli-Opitz syndrome is a developmental defect during embryogenesis[1]. It draws 304 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #73 of 308).[2]
Key Facts
- Smith-Lemli-Opitz syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Smith-Lemli-Opitz syndrome's instance of is recorded as rare disease[4].
- Smith-Lemli-Opitz syndrome's instance of is recorded as class of disease[5].
- David Weyhe Smith is named after Smith-Lemli-Opitz syndrome[6].
- John Marius Opitz is named after Smith-Lemli-Opitz syndrome[7].
- Luc Lemli is named after Smith-Lemli-Opitz syndrome[8].
- Smith-Lemli-Opitz syndrome is a type of lipid metabolism disorder[9].
- Smith-Lemli-Opitz syndrome is a type of syndrome[10].
- Smith-Lemli-Opitz syndrome is a type of sterol biosynthesis disorder[11].
- Smith-Lemli-Opitz syndrome is a type of syndromic renal or urinary tract malformation[12].
- Smith-Lemli-Opitz syndrome is a type of dysostosis with limb and face anomalies as a major feature[13].
- Smith-Lemli-Opitz syndrome is a type of syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy[14].
- Smith-Lemli-Opitz syndrome is a type of craniofacial anomaly with cataract[15].
- Smith-Lemli-Opitz syndrome is a type of metabolic disease with cataract[16].
- Smith-Lemli-Opitz syndrome is a type of ptosis[17].
- Smith-Lemli-Opitz syndrome is a type of syndromic epicanthus[18].
- Smith-Lemli-Opitz syndrome is a type of 46,XY disorder of sex development due to a cholesterol synthesis defect[19].
- Smith-Lemli-Opitz syndrome is a type of malformation syndrome with short stature[20].
- Smith-Lemli-Opitz syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[21].
- Smith-Lemli-Opitz syndrome is a type of syndromic developmental defect of the eye[22].
- Smith-Lemli-Opitz syndrome is a type of syndromic neurometabolic disease with non-X-linked intellectual disability[23].
- Smith-Lemli-Opitz syndrome is a type of syndromic dyslipidemia[24].
- Smith-Lemli-Opitz syndrome is a type of disease[25].
- Smith-Lemli-Opitz syndrome's ICD-9-CM is recorded as 759.89[26].
- Smith-Lemli-Opitz syndrome's NCI Thesaurus ID is recorded as C85071[27].
Why It Matters
Smith-Lemli-Opitz syndrome draws 304 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #73 of 308).[2] It has Wikipedia articles in 17 language editions, a strong signal of global cultural recognition.[28] It is known by 15 alternative names across languages and contexts.[29]