Table 7.

Recommended Surveillance for Individuals with Smith-Lemli-Opitz Syndrome

  • Measurement of growth parameters 1
  • Evaluation of nutritional status & safety of oral intake
At each visit
Gastrointestinal Monitor for constipation
Assessment of cholesterol, serum concentration of 7-DHC, and serum amino transferases (ALT & AST)Every 3-4 mos in1st few yrs of life; 2x/yr thereafter
Development Monitor developmental progress & educational needs.Age-appropriate developmental assessment ≥2x/yr until age 3 yrs; annually thereafter
Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior 2

At each visit

  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, movement disorders.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Eyes Pediatric vision screeningAnnually in childhood
Hearing Pediatric hearing screening
Genitourinary Monitor for urinary tract infections & gonadal location.As clinically indicated
Dental Evaluation by a dentist≥2x/yr starting at age 3 yrs
Endocrine Assessment for signs of puberty & progression through pubertyStarting at age ~10 yrs until adulthood
Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

Because children with SLOS have low muscle mass, careful monitoring of weight gain and growth is necessary so that overconsumption of calories does not lead to obesity.


In individuals who are on psychotropic drugs, close monitoring of clinical signs/symptoms and consideration of monitoring serum concentration of 7-DHC (depending on the drug that is prescribed) is recommended; see Agents/Circumstances to Avoid.

From: Smith-Lemli-Opitz Syndrome

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