====== Aase-Smith Syndrome ======
====Main Features====
=== Type I ===
  * Severe joint contractures 
  * Hydrocephalus from Dandy Walker anomaly
  * Overlap with [[https://pubmed.ncbi.nlm.nih.gov/24878349/|Gordon syndrome]] 
=== Type II ===
  * Triphalangeal thumbs (finger-like)
  * Anemia 
  * Might be the same as [[https://www.omim.org/entry/612561|Diamond-Blackfan Syndrome]] 
====Eye Findings====
  * Downslanting palpebral fissures: euryblepharon, occasionally
  * Ptosis 
  * Retinopathy occasionally
====Other Findings====
  * Ventricular septal defect
  * Cleft palate 
  * Congenital Neuroblastoma (1 case)
====Etiology====
  * Most likely autosomal recessive
  * Very few cases reported
====Reference====
  * [[https://www.omim.org/entry/147800?search=%22aase-smith%20syndrome%22&highlight=0%2C%20spanNear%28%5BspanOr%28%5Baasesmith%2C%7CspanNear%28%5Baase%2C%7Csmith%5D%2C%7C0%2C%7Ctrue%29%5D%29%2C%20spanOr%28%5Bsyndromic%2C%7Csyndrome%5D%29%5D%2C%20true%29|OMIM]]


{{tag>syndrome}}