Hydrocephalus (Dandy-Walker anomaly), cleft palate,
severe joint contractures, congenital neuroblastoma, ventricular septal
Distal Arthrogryposis Type IIB Syndrome; Triphalangeal
Thumb-Hypoplastic Anemia Hydrocephalus Syndrome.
First described in 1968, in a father and two children, by
Jon Morton Aase and David Weyhe Smith, American pediatricians.
Based on the clinical findings of severe joint
contractures and joint anomalies, and hydrocephalus with Dandy-Walker
Cranial features may include hydrocephalus
associated with a Dandy-Walker malformation, ptosis, external ear
deformities, and limited mouth opening. Multiple ventricular septal defects
have been reported. Severe joint contractures affect predominantly the
fingers. Very thin and filiform fingers with absent knuckles. Limited
extension of the elbows and knees. Clubfoot deformity. Congenital
neuroblastoma has been reported.
Obtain an echocardiogram to rule out
cardiac lesions. Check for the presence of raised intracranial pressure
(check fontanelle in infants). Ultrasound may be required to rule out
Very severe limitation of mouth opening.
Expect airway management to be difficult. Maintain spontaneous ventilation
until the airway has been secured. Careful positioning and padding are
Avoid neuromuscular blockers until
the airway has been secured.
Patton MA, Sharma A, Winter RM: The Aase-Smith syndrome. Clin Genet