Smith-Lemli-Optiz Syndrome
Characteristics
- Distinctive facial features
- microcephaly with bitemporal narrowing, a short upturned nose with anteverted nares, unilateral or bilateral ptosis, epicanthus, and retrognathia
See Reference [1] below
- Microcephaly
- Intellectual disability or learning problems
- Behavioral problems
- autism
- Feeding difficulties and growth delay
- Malformations
- heart
- lungs
- kidneys
- gastrointestinal tract
- genitals
- polydactyly
- syndactyly
Ocular Abnormalities
- Cataract (congenital or acquired)
- Strabismus
- 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
- DHCR7 gene mutations
- Inherited in an autosomal recessive pattern.