Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Smith-Lemli-Opitz Syndrome

Constitutional Assessment of growth, incl weight, length/height, & head circumference
Gastroenterology / nutrition / feeding team eval
  • Consider assessment for pyloric stenosis or gastroesophageal reflux in those w/suggestive symptoms.
  • Particular attention should be given to stooling pattern, abdominal distention, or other signs of possible bowel obstruction because of risk for Hirschsprung disease.
AST, ALT, and bilirubin concentrationsTo assess for cholestatic liver disease
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language evaluation
  • Evaluation for early intervention / special education
Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Neurologic Neurologic evalTo incl brain MRI & EEG if seizures are a concern
Genitourinary Physical exam of external genitalia
  • To assess for genital anomalies
  • If external genital anomalies are present, consider pelvic imaging to evaluate for internal structures (e.g., undescended gonads, müllerian structure).
Renal ultrasoundTo evaluate for structural renal anomalies
Craniofacial Clinical assessment for cleft palateReferral to a multidisciplinary craniofacial team, if possible
Dental Routine dental assessment & follow upMay require sedation for dental work
Eyes Ophthalmologic evalTo assess for strabismus, cataracts, & functional eye problems
Cardiovascular Consider EKG & echocardiogram.
  • To assess for congenital heart defect
  • Consider referral to cardiologist.
Musculoskeletal Orthopedics / physical medicine & rehabilitation / PT / OT evalTo incl assessment of:
  • Syndactyly, polydactyly, & abnormalities of the toes
  • Gross motor & fine motor skills
  • Need for ankle-foot orthoses or other orthotics
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Hearing Audiologic evalAssess for hearing loss.
Endocrine 1 Consider glucose & electrolyte levels in infants.To assess for adrenal insufficiency
Testosterone level in malesIn adolescents/adults w/signs of delayed or incomplete puberty
Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family support/resourcesAssess:
  • Use of community or online resources such as Parent to Parent;
  • Need for social work involvement for parental support;
  • Need for home nursing referral.

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy


In severely affected individuals, treatment with stress steroids in doses customarily used for children with congenital adrenal hyperplasia (see 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia) is recommended during periods of illness, stress, or prolonged decrease in oral intake [Bianconi et al 2011].

From: Smith-Lemli-Opitz Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Mirzaa GM, Pagon RA, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2023.
Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2023 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.