Table 5.

Treatment of Manifestations in Individuals with SALL4-Related Disorders

Manifestation/ConcernTreatmentConsiderations/Other
Duane anomaly Severe strabismus may require eye surgery.
Radial ray malformations Severe malformations of forearms may require surgery, e.g., surgery to correct aplasia of thumb by constructing functional thumb (pollicization)
Renal anomalies Mgmt per nephrologist &/or urologist
Cardiac anomalies &/or conduction defects
  • Cardiac surgery, if required for congenital heart defect, is standard.
  • Cardiologist can assist in determining need for antiarrhythmic medications & surgery.
  • Persons w/severe heart block may require pacemaker implantation.
Cardiologist can assist in determining need for anticoagulants & antibiotic prophylaxis for bacterial endocarditis.
Hearing deficits Hearing aids may be required.
Growth hormone deficiency Growth hormone therapy should be considered.
Pituitary hypoplasia Treatment per endocrinologist

From: SALL4-Related Disorders

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