Table 6.

Recommended Surveillance for Individuals with SALL4-Related Disorders

System/ConcernEvaluationFrequency
Ocular anomalies Ophthalmologic examPer ophthalmologist
Renal anomalies Monitor renal function (e.g., serum creatinine), even if no impairment of renal function is detected on initial exam.
  • Every 6-12 mos in 1st yrs of life
  • If renal function remains normal, screening intervals may be extended.
Renal ultrasound
  • Repeat if renal position anomalies could cause obstruction.
  • Frequency depends on clinical situation.
Cardiac anomalies EchocardiogramEvery 1-5 yrs depending on nature & significance of cardiac malformation, as recommended by cardiologist
Cardiac conduction defects (incl those at risk for conduction defects)
  • EKG
  • Consider Holter monitor.
Annually or more often, as recommended by cardiologist
Thrombocytopenia
&/or leukocytosis 		CBCAt least annually 1
Hearing Audiologic evalPer audiologist &/or ENT
Endocrine Assess growth & for signs/symptoms of pituitary hypoplasia.At each visit

CBC = complete blood count

1.

Data are sparse on the natural history of thrombocytopenia in individuals with SALL4 pathogenic variants; thus, it is unknown at present if more severe complications may occur.

From: SALL4-Related Disorders

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