Table 6.

Supportive Treatment of Manifestations in Individuals with Smith-Lemli-Opitz Syndrome

Poor weight gain / Failure to thrive Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues. 1Low threshold for clinical feeding evaluation &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Consider use of hypoallergenic or elemental formulas in infants.
Bowel dysfunction Standard treatment for gastroesophageal reflux
Standard treatment for Hirschsprung disease & pyloric stenosis 1Referral to gastroenterologist
Stool softeners, prokinetics, osmotic agents, or laxatives as neededFor constipation
Neonatal cholestatic liver disease Cholesterol &/or bile acid therapyConsider referral to hepatologist.
Developmental delay / Intellectual disability See Developmental Delay / Intellectual Disability Management Issues.
Psychiatric disturbance & behavioral issues Standard treatment per psychiatrist
  • Haloperidol 2
  • Trazodone & apripiprazole (Abilify®) ↑ 7-DHC levels. 3
Sleep disturbance A trial of melatonin; if insufficient, other hypnotic may be considered.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many different ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 4
Hypotonia & later hypertonia Orthopedics / physical medicine & rehab / PT & OT incl AFOs & other orthotics, stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Tendon release surgery 1 or Botox® therapyIn older children w/significant hypertonia
Photosensitivity Skin protection through proper clothing, avoidance of sun exposure, & UVA- & UVB-protection sunscreen
Genital anomalies Standard treatment per urologist &/or gynecologist 1
Cleft palate Standard treatment 1
Dental anomalies Proper positioning, choice of dental devices, & sedation techniques need to be considered. 1 Muzzin & Harper [2003]
Cataracts, ptosis, &/or strabismus Standard treatment(s) per ophthalmologist 1
Congenital heart defects Standard treatment per cardiologist 1
Limb defects Syndactyly of hands &/or feet &/or polydactyly may require surgical repair. 1
Recurrent otitis media Standard treatmentIncl consideration of tympanostomy tube placement. 1
Hearing loss Hearing aids may be helpful as per otolaryngologist.Community hearing services through early intervention or school district
Adrenal insufficiency Standard treatment per endocrinologist 5
Family/Community Ensure appropriate social work involvement to connect families w/local resources, respite, & support.Ongoing assessment of need for palliative care involvement &/or home nursing
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy; AFO = ankle-foot orthosis


Anesthetic problems including muscular rigidity and malignant hyperthermia have been reported [Choi & Nowaczyk 2000]. Airway management during anesthesia may be challenging; use of a laryngeal mask airway has been successful [Leal-Pavey 2004, Matveevskii et al 2006].


Treatment with haloperidol may exacerbate the biochemical sterol abnormalities in individuals with SLOS and cause an increase in symptoms; see Agents/Circumstances to Avoid.


One must weigh the benefit of such medications against the potential negative side effects; see Agents/Circumstances to Avoid.


Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.


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

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