Table 5.

Simpson-Golabi-Behmel Syndrome Type 1: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Macroglossia, micrognathia, &/or glossoptosis Prompt standard treatment to maintain secure airway; consider feeding/swallowing eval.May require care of craniofacial team
Cleft palate or bifid uvula Assessment of feeding & mgmt by cleft/craniofacial team
Obstructive sleep apnea
  • If due to macroglossia, consider mgmt similar to Beckwith-Wiedemann syndrome.
  • Sleep study & potential CPAP or hemiglossectomy if indicated
Limited data are available on prevalence & treatment of OSA in persons w/SGBS1.
Feeding difficulties
  • Milder feeding issues may be managed w/special nipples or nasogastric feeding in consultation w/specialist.
  • Consider gastrostomy tube in those w/severe feeding issues.
Limited data are available on treatment of feeding difficulties in persons w/SGBS1.
Eyes Standard treatment for strabismus & cataracts
Hearing Standard treatment for hearing loss
Congenital heart defects & conduction abnormalities Standard treatment per cardiologist
Hypospadias/cryptorchidism in males Standard treatment per urologist
Musculoskeletal findings (i.e., scoliosis) Standard treatment per orthopedist
Seizure disorder Standard treatment per neurologist
Hypoglycemia or suspected hyperinsulinism Prompt treatment per endocrinologistConsider referral to tertiary care center for hyperinsulinism eval if suspected.
Developmental delay Early referral for developmental support / special education, which may incl PT, OT, speech therapy, &/or cognitive therapyConsider referral to neurodevelopmental specialist &/or neuropsychiatric testing.
Cancer predisposition For Wilms tumor, nephron sparing surgery should be considered if possible.See Surveillance for recommended tumor-screening protocol.

CPAP = continuous positive airway pressure; OT = occupational therapy; OSA = obstructive sleep apnea; PT = physical therapy; SGBS1 = Simpson-Golabi-Behmel syndrome type 1

From: Simpson-Golabi-Behmel Syndrome Type 1

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