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--- smith-lemli-opitz_syndrome [2020/09/24 11:51] – [Characteristics] Scott Larson
+++ smith-lemli-opitz_syndrome [2025/07/11 18:05] (current) – Scott Larson
@@ Line 1: / Line 1: @@
 ====== Smith-Lemli-Optiz Syndrome ======
-===== Characteristics =====
+==== Characteristics ====
-  * distinctive facial features
+  * Distinctive facial features
     * microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia
-  * microcephaly
+<WRAP round box 60%>{{::smith_lemli_optiz.jpg?|}} \\ See Reference [1] below
-  * intellectual disability or learning problems
+</WRAP>
-  * behavioral problems
+  * Microcephaly
+  * Intellectual disability or learning problems
+  * Behavioral problems
     * autism
   * Feeding difficulties and growth delay
@@ Line 16: / Line 18: @@
     * polydactyly
     * syndactyly
+==== Ocular Abnormalities ====
+  * Cataract (congenital or acquired)
-===== Ocular Abnormalities =====
+  * Strabismus
-  * Cataract
   * Demylenation of optic nerves
   * Sclerosis of lateral geniculate bodes
   * Opsoclonus
+    * One case report describing a three-year-old boy with SLOS who exhibited spontaneous opsoclonus-like eye movements, along with other neuro-ophthalmological abnormalities and cerebellar vermis agenesis. Neuropathological findings in this case included loss of Purkinje cells and extensive neuronal degeneration within the dentate nuclei, which may contribute to the pathophysiology of opsoclonus in SLOS. [3]
+    * Opsoclonus is not described as a common or characteristic feature of SLOS in larger clinical series or reviews, and it is not highlighted in the clinical descriptions or guidelines from GeneReviews or other major summaries. This is likely as a rare manifestation related to underlying cerebellar and brainstem pathology. [4]
   * Poor visual following behavior
+====Etiology====
+  * [[https://ghr.nlm.nih.gov/gene/DHCR7|DHCR7]] gene mutations
+  * Inherited in an autosomal recessive pattern.
+====References====
+  - [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216/#!po=0.505051 | Bainconi S E. et al. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs 2015;3(3):267-280]]
+  - [[http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome|Smith-Lemli-Opitz syndrome in Medline Plus]]
+  - [[https://pubmed.ncbi.nlm.nih.gov/844667/ | Fierro M. et. al. Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. Dev Med Child Neurol. 1977;19(1):57-62]]
+  - [[https://www.ncbi.nlm.nih.gov/books/NBK1143/ |Gene Reviews]]
-===== References =====
+{{tag>syndrome}}
-[[http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome|NLM Link]]\\
-{{tag>syndrome cataract}}

syndrome