Table 5.

Treatment of Manifestations in Individuals with Schaaf-Yang Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • A special nipple or nasogastric tube may be required.
  • Gastrostomy tube placement may be considered for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Obesity w/metabolic syndrome
  • Nutritional intervention incl restricted caloric intake
  • Standard treatment for insulin resistance / diabetes
  • Standard treatment for hyperlipidemia
GERD Standard therapy
Constipation Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Short stature Consideration of GH therapy
  • Affected persons w/short stature should benefit from off-label GH supplementation to improve body height. GH therapy may also have positive effects on muscle strength & body composition.
  • Polysomnography & adenotonsillar eval should be completed prior to initiation of GH therapy.1
Acute respiratory distress in infancy Invasive or noninvasive assisted ventilation for acute respiratory distressTracheostomy may be required for severe, prolonged respiratory compromise.
Sleep apnea Overnight application of noninvasive ventilation (e.g., CPAP)Low threshold for performing addl sleep apnea tests / sleep studies
Skeletal abnormalities Standard treatment for contractures, clubfoot, & scoliosis per orthopedist
Low bone mineral density Standard treatment per endocrinologist
  • Optimization of Ca2+ & vitamin D levels
  • Bisphosphonates may be considered.
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 2
Abnormal vision &/or strabismus Standard treatment(s) per ophthalmologistCommunity vision services through early intervention or school district
Undescended testes Standard treatment per urologist
Hypogonadism Consideration of short course of testosterone therapy in early infancy for males w/small penis (stretched penile length <−2 SD)
Pubertal abnormalities Standard hormonal treatment per endocrinologist
Hypothyroidism Thyroid hormone replacement therapy
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; CPAP = continuous positive airway pressure; DD = developmental delay; GERD = gastroesophageal reflux disease; GH = growth hormone; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

1.
2.

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.

From: Schaaf-Yang Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, 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 (http://www.genereviews.org/) and copyright (© 1993-2024 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.