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smith-magenis_syndrome [2022/03/03 21:30] – [Eye Findings] Scott Larsonsmith-magenis_syndrome [2025/06/14 02:11] (current) – Scott Larson
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 ====Main Features==== ====Main Features====
   * Distinctive physical features   * Distinctive physical features
 +    * Brachycephaly, broad nasal bridge, prominent forehead, synophrys, downturned upper lip, prognathism, malformed and malpositioned helices 
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F1/?report=objectonly|Infants]]     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F1/?report=objectonly|Infants]]
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F2/?report=objectonly|School Age]]     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F2/?report=objectonly|School Age]]
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F3/?report=objectonly|Adolescent]]     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F3/?report=objectonly|Adolescent]]
 +
 +{{:Smith-Magenis_face.jpg}}
 +From 2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996
   * Developmental delay   * Developmental delay
   * Cognitive impairment   * Cognitive impairment
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   * Iris anomalies (68%)   * Iris anomalies (68%)
     * No iris collarette     * No iris collarette
-    * Nasal corecdtopia+    * Nasal correctopia
     * Stromal dysplasia     * Stromal dysplasia
     * Mamillations     * Mamillations
-    * Wölffin-Krückmann spots +    * [[wolfflin_kruckmann|Wölfflin-Krückmann spots]] 
-  * Strabismus +  * Microcornea (50%) 
-  * Myopia +  * Myopia (42%) 
-   +  * Strabismus (32%) 
-  * Microcornea+    * Esotropia > Exotropia > Hypertropia 
 +  * Microphthalmos (rare) 
 +  * Uveal and Retinal Coloboma (rare) 
 + 
 ====Other Findings==== ====Other Findings====
   * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/table/sms.T.clinical_features_of_smithmagenis/?report=objectonly|Clinical Features Table]]   * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/table/sms.T.clinical_features_of_smithmagenis/?report=objectonly|Clinical Features Table]]
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   * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.   * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.
 ==== References ==== ==== References ====
-[[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]\\ +  - [[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]   
-[[https://www.sciencedirect.com/science/article/pii/S0161642096305630/pdfft?isDTMRedir=true&download=true|Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996]]+  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EbJgXrXrjRFHvvrIPijPUQ4BaVKWok9DbwnFjIdvwAgvew?e=ggHb8D|Chen RM. et al.  Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996;103:1084-1091]]
  
-{{tag>syndrome unfinished}}+{{tag>syndrome}}