Table 7.

Recommended Surveillance for Individuals with Cranioectodermal Dysplasia

System/ConcernEvaluationFrequency
Dental anomalies Dental exam to detect tooth damage & oligodontiaEvery 6 mos beginning at age 1 yr
Nephronophthisis
  • Osmolarity testing in AM urine
  • Urine collection assays to test for polyuria
  • Blood pressure
  • Serum creatinine & blood urea concentration
  • Renal ultrasound exam to determine renal size & presence of cysts
Per clinical course & per nephrologist after diagnosis
Hepatic fibrosis Measurement of transaminases & synthetic liver functionPer clinical course & per hepatologist after diagnosis
Retinal
dystrophy 		Ophthalmologic examsAnnually starting at age 4 yrs; ERG & fundoscopy can be performed earlier if evidence of ↓ vision.
Cardiac
malformations 		Cardiac exam, EKG, & echocardiography per cardiologistPer clinical course & per cardiologist recommendations, depending on initial findings after diagnosis
Developmental
delay 		Developmental eval
  • W/each visit during infancy & childhood
  • Formal eval w/neuropsychologist if delays are present

EKG = electrocardiogram; ERG = electroretinography

From: Cranioectodermal Dysplasia

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