======Wiedemann-Steiner Syndrome ======

====Main Features====
  * Developmental delay/Intellectual disability
  * Hypotonia
  * Distinctive Facial Features 

====Eye Findings====
  * Dysmorphisms
    * Downslanting Palpebral Fissures (74-94%)
    * Vertically narrow (short) palpebral fissures (72-80%)
    * Hypertelorism (77%) 
    * Long eyelashes and thick eyebrows 
    * Telecanthus and Epicanthus 
    * Ptosis (16%)
  * Refractive errors (47%)
  * Strabismus (22%) 
  * Amblyopia 
  * Lacrimal duct fistuale and stenosis (9%)
  * Retinal anomalies (rare)
  * Microphthalmia (rare) 
====Other Findings====
  * Failure to thrive
  * Short stature
  * Constipation 
  * Heart defects
    * PDA, ASD
  * GU
    * renal calyceal dilation, uterine anomalies
  * Immune
    * Hypogammaglobulinemia and  recurrent infections
  * Endocrine 
    * Growth Hormone deficiency
    * Hypothyroidism
    * premature thelarche
  * Skeletal
    * Vertebral anomalies 
    * accelerated skeletal maturation, hypdysplasia brachydactyly, clinodactyly
  * CNS
    * Seizures 
    * polymicrogyria, hypoplasia of corpus callosum, Chiari malformation, tethered cord  
====Etiology====
  * Heterozygous (monoallelic) pathologic variant of the KMT2A gene located on chromosome 11q23. 
    * KMT2A regulates gene expression during development 
  * Prevalence is about 1:25,000 to 40,000.  
====Resources====
  * [[https://www.ncbi.nlm.nih.gov/books/NBK580718/|Gene Reviews Summary]]
  * [[https://onlinelibrary.wiley.com/doi/10.1111/cge.12586| Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations. Miyake N. et al. Clinical Genetics 2015;89(1):115-119]]

{{tag>syndrome}}