====== Smith-Magenis Syndrome ======
====Main 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.F2/?report=objectonly|School Age]]
    * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F3/?report=objectonly|Adolescent]]

{{:Smith-Magenis_face.png}}
{{:ophthalmic_manifestations_of_smith-magenis_syndrome_1996.pdf|From Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996}}
  * Developmental delay
  * Cognitive impairment
  * Behavioral abnormalities
  * Sleep disturbance
  * Childhood-onset abdominal obesity
====Eye Findings====
  * Iris anomalies (68%)
    * No iris collarette
    * Nasal correctopia
    * Stromal dysplasia
    * Mamillations
    * [[wolfflin_kruckmann|Wölfflin-Krückmann spots]]
  * Microcornea (50%)
  * Myopia (42%)
  * Strabismus (32%)
    * Esotropia > Exotropia > Hypertropia
  * Microphthalmos (rare)
  * Uveal and Retinal Coloboma (rare)
 
====Other Findings====
  * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/table/sms.T.clinical_features_of_smithmagenis/?report=objectonly|Clinical Features Table]]
====Etiology====
  * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.
==== References ====
  - [[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]
  - {{:ophthalmic_manifestations_of_smith-magenis_syndrome_1996.pdf|Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996}}

{{tag>syndrome}}