Aase-Smith syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder.

Clinical presentation

• congenital hypoplastic anemia - fetal anemia
• triphalangeal thumbs
• broad thumb
• abnormal clavicles
• cleft lip or cleft palate
• hypoplastic radii
• hydrocephalus (due to Dandy-Walker anomaly)
• joint contractures
• narrow shoulders
• underdeveloped lower arms
• ventricular septal defect
• delayed closure of fontanelles 
• ear anomalies

Pathology

It is believed to be due to an underdeveloped bone marrow

Genetics

The genetic basis is not yet known however it is believed to be an autosomal recessive disorder

Associations

• Joubert syndrome
• Walker-Warburg syndrome
• Ellis-van Creveld syndrome
• an overlap with Gordon syndrome is often suggested ⁸

History and etymology

It is named after Jon Morton Aase and David Weyhe Smith, American paediatricians, who characterized it in 1968 ⁵.