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| smith-magenis_syndrome [2022/03/03 15:05] – [Eye Findings] Scott Larson | smith-magenis_syndrome [2026/07/27 12:09] (current) – [Eye Findings] Scott Larson | ||
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| Line 2: | Line 2: | ||
| ====Main Features==== | ====Main Features==== | ||
| * Distinctive physical features | * Distinctive physical features | ||
| - | * Brachycephaly, | + | * Brachycephaly, |
| * [[https:// | * [[https:// | ||
| * [[https:// | * [[https:// | ||
| * [[https:// | * [[https:// | ||
| + | |||
| + | {{: | ||
| + | From 2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996 | ||
| * Developmental delay | * Developmental delay | ||
| * Cognitive impairment | * Cognitive impairment | ||
| Line 22: | Line 25: | ||
| * Strabismus (32%) | * Strabismus (32%) | ||
| * Esotropia > Exotropia > Hypertropia | * Esotropia > Exotropia > Hypertropia | ||
| - | * Microphthalmos (rare) | + | * [[microphthalmos|Microphthalmos]] (rare) |
| * Uveal and Retinal Coloboma (rare) | * Uveal and Retinal Coloboma (rare) | ||
| Line 30: | Line 33: | ||
| * 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:// | + | - [[https:// |
| - | {{: | + | - [[https:// |
| {{tag> | {{tag> | ||