Table of Contents
Aase-Smith Syndrome
Main Features
Eye Findings
Other Findings
Etiology
Reference
Aase-Smith Syndrome
Main Features
Type I
Severe joint contractures
Hydrocephalus from Dandy Walker anomaly
Overlap with
Gordon syndrome
Type II
Triphalangeal thumbs (finger-like)
Anemia
Might be the same as
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
OMIM
syndrome