Table 5. [Treatment of Manifestations in Individuals with Wiedemann-Steiner Syndrome]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Epilepsy	Standardized treatment w/ASM by experienced neurologist or epileptologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. Education of parents/caregivers ¹
Developmental delay / Intellectual disability / Behavioral issues	See Developmental Delay / Intellectual Disability Management Issues.
Congenital hip dysplasia	Standard treatment per orthopedist	May incl use of Pavlik harness, & in extreme cases may require surgical intervention
Fusion of cervical vertebrae	Individual assessment per orthopedist	Rarely, affected persons have required laminectomy.
Poor weight gain / Failure to thrive	Feeding therapy Nasogastric or gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval
Bowel dysfunction	Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Strabismus, astigmatism, & other refractive errors	Standard treatment by ophthalmologist
Blepharoptosis	Consideration of oculoplastic surgery
Obstructive sleep apnea	Treatment may incl CPAP, BiPAP, or surgical removal of tonsils & adenoids.
Congenital heart defects & arrhythmias	Standard treatment per cardiologist	May incl medical mgmt w/antiarrhythmic or surgical mgmt
Renal anomalies	Standard treatment per nephrologist
Uterine anomalies	Standard treatment per gynecologist
Growth hormone deficiency	Growth hormone therapy	This treatment is typically undertaken by an endocrinologist.
Thyroid dysfunction	Thyroid hormone replacement therapy
Metabolic bone disease	Standard treatment per endocrinologist	May incl vitamin D supplementation
Frequent infections / Immune dysfunction	Consider IVIG in those w/low antibody levels &/or prophylactic antibiotic in those w/frequent infections.	Mgmt by immunologist is recommended.
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.

Manifestation/Concern

Treatment

Considerations/Other

Epilepsy

Standardized treatment w/ASM by experienced neurologist or epileptologist

Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
Education of parents/caregivers ¹

Developmental delay /
Intellectual disability /
Behavioral issues

See Developmental Delay / Intellectual Disability Management Issues.

Congenital hip dysplasia

Standard treatment per orthopedist

May incl use of Pavlik harness, & in extreme cases may require surgical intervention

Fusion of cervical vertebrae

Individual assessment per orthopedist

Rarely, affected persons have required laminectomy.

Poor weight gain /
Failure to thrive

Feeding therapy
Nasogastric or gastrostomy tube placement may be required for persistent feeding issues.

Low threshold for clinical feeding eval

Bowel dysfunction

Stool softeners, prokinetics, osmotic agents, or laxatives as needed

Strabismus, astigmatism, & other
refractive errors

Standard treatment by ophthalmologist

Blepharoptosis

Consideration of oculoplastic surgery

Obstructive sleep apnea

Treatment may incl CPAP, BiPAP, or surgical removal of tonsils & adenoids.

Congenital heart
defects & arrhythmias

Standard treatment per cardiologist

May incl medical mgmt w/antiarrhythmic or surgical mgmt

Renal anomalies

Standard treatment per nephrologist

Uterine anomalies

Standard treatment per gynecologist

Growth hormone deficiency

Growth hormone therapy

This treatment is typically undertaken by an endocrinologist.

Thyroid dysfunction

Thyroid hormone replacement therapy

Metabolic bone disease

Standard treatment per endocrinologist

May incl vitamin D supplementation

Frequent infections /
Immune dysfunction

Consider IVIG in those w/low antibody levels &/or prophylactic antibiotic in those w/frequent infections.

Mgmt by immunologist is recommended.

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.

From: Wiedemann-Steiner Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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.