Aase-Smith syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.

Epidemiology

Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases.

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 pediatricians, who characterized it in 1968 ⁵.