====== HADD Syndrome ======
**H**ypotonia **A**taxia, **D**elayed **D**evelopment Syndrome 
AKA:  EBF3 neurodevelopmental disorder (EBF3-NDD)

====Main Features====
  * Intellectual disability
  * Microcephaly
  * Speech delay 
    * mainly expressive speech delay
    * dysarthria
  * Gait or truncal ataxia
  * Hypotonia
  * Behavioral problems
    * stereotypic movements (e.g., rotating movements, chewing on clothes, head retropulsion)
    * perseverative social behavior
    * short attention span
  * Facial dysmorphism

====Eye Findings====
  * Strabismus: Esotropia 
{{::hadds_esotropia.png?400|}}
  * Deep-set eyes 
  * [[https://elementsofmorphology.nih.gov/index.cgi?tid=5e417df50b2316f4|Synophrys]], Straight eyebrows 
  * Astigmatism
  * Epicanthal folds
  * Hypertelorism
  * Downslanting palpebral fissures 
====Other Findings====
  * Genitourinary
    * micropenis
    * cryptorchidism
    * vesicoureteral reflux
    * renal anomalies
  * Gastrointestinal abnormalities
  * Musculoskeletal abnormalities 
  * MRI Brain findings
    * Cerebellar vermis hypoplasia 
    * Cerebellar atrophy or hypoplasia 
    * Small inferior posterior cerebellar lobes and hypoplasia of the posterior vermis with mild prominence of the ventricles and sulci
    * Abnormal configuration of cerebellar folia arranged in radial shape 
====Etiology====
  * [[https://www.ncbi.nlm.nih.gov/gtr/tests/583110/|EBF3 gene mutation]]
====Reference====
  * [[https://www.ncbi.nlm.nih.gov/books/NBK570204/#ebf3-ndd.Summary|Gene Reviews]]
  * [[https://www.ncbi.nlm.nih.gov/medgen/934585|Med Gen Summary]]
  * [[https://www.omim.org/entry/617330|OMIM]]

{{tag>syndrome}}