Table 6. [Schinzel-Giedion Syndrome: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Developmental delay / Intellectual disability	See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy	Standardized treatment w/ASMs, ACTH, &/or steroids by experienced neurologist	Seizures may be extremely refractory to ASMs, ACTH, steroids, & ketogenic diet. Different (combined) ASMs may be effective but none has been demonstrated effective specifically for this disorder. Education of parents/caregivers ¹
Poor weight gain / Failure to thrive	Gastrostomy tube placement may be required for persistent feeding issues. Standard mgmt for gastroparesis	Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Spasticity	Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls	Consider need for positioning & mobility devices, disability parking placard.
Eyes	Per ophthalmologist	Refractive errors, strabismus, eye lubrication for alacrima
Per ophthalmic subspecialist	More complex findings (e.g., cataract, retinal dystrophy)
Low vision services	Children: through early intervention programs &/or school district Adults: low vision clinic &/or community vision service / OT / mobility services
Cerebral visual impairment	No specific treatment	Early intervention program to stimulate visual development
Hearing	Hearing aids may be helpful per otolaryngologist.	Community hearing services through early intervention or school district
Bowel dysfunction	Stool softeners, prokinetics, osmotic agents, laxatives, or bowel washout w/flatus tube & warm water	Daily for maintenance &/or as needed
Genitourinary	Per urologist	Straight catheterization on daily schedule Surgical interventions, such as vesicostomy, as needed
Per nephrologist	Standard mgmt for hydronephrosis & renal anomalies
Respiratory	Per pulmonologist	Consider oscillating vests to loosen & thin mucus, supplemental oxygen, CPAP, mucus suctioning, & chest physiotherapy
Cancer (classic SGS only)	Therapy depending on type of cancer Standard guidelines for respective cancer may be followed	Chemotherapy dose intensification does not seem to be feasible due to ↑ likelihood of infections
Infections	Treatment depending on type of infection	Consider prophylactic antibiotics for recurrent infections.
Cardiac anomalies	Per cardiologist
Sleep	Monitor for sleep disturbances.	Consider polysomnography/EEG when indicated.
Dental	Per dentist	Dental care w/attention to gingival hypertrophy, crowding, hypodontia, & delayed tooth eruption
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, palliative care, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Ongoing assessment of need for palliative care involvement &/or home nursing
Palliative care	Per palliative team	Based on needs of affected person Hospice services if applicable

Manifestation/Concern

Treatment

Considerations/Other

Developmental delay /
Intellectual disability

See Developmental Delay / Intellectual Disability Management Issues.

Epilepsy

Standardized treatment w/ASMs, ACTH, &/or steroids by experienced neurologist

Seizures may be extremely refractory to ASMs, ACTH, steroids, & ketogenic diet.
Different (combined) ASMs may be effective but none has been demonstrated effective specifically for this disorder.
Education of parents/caregivers ¹

Poor weight gain /
Failure to thrive

Gastrostomy tube placement may be required for persistent feeding issues.
Standard mgmt for gastroparesis

Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia

Spasticity

Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls

Consider need for positioning & mobility devices, disability parking placard.

Eyes

Per ophthalmologist

Refractive errors, strabismus, eye lubrication for alacrima

Per ophthalmic subspecialist

More complex findings (e.g., cataract, retinal dystrophy)

Low vision services

Children: through early intervention programs &/or school district
Adults: low vision clinic &/or community vision service / OT / mobility services

Cerebral visual impairment

No specific treatment

Early intervention program to stimulate visual development

Hearing

Hearing aids may be helpful per otolaryngologist.

Community hearing services through early intervention or school district

Bowel dysfunction

Stool softeners, prokinetics, osmotic agents, laxatives, or bowel washout w/flatus tube & warm water

Daily for maintenance &/or as needed

Genitourinary

Per urologist

Straight catheterization on daily schedule
Surgical interventions, such as vesicostomy, as needed

Per nephrologist

Standard mgmt for hydronephrosis & renal anomalies

Respiratory

Per pulmonologist

Consider oscillating vests to loosen & thin mucus, supplemental oxygen, CPAP, mucus suctioning, & chest physiotherapy

Cancer
(classic SGS only)

Therapy depending on type of cancer
Standard guidelines for respective cancer may be followed

Chemotherapy dose intensification does not seem to be feasible due to ↑ likelihood of infections

Infections

Treatment depending on type of infection

Consider prophylactic antibiotics for recurrent infections.

Cardiac anomalies

Per cardiologist

Sleep

Monitor for sleep disturbances.

Consider polysomnography/EEG when indicated.

Dental

Per dentist

Dental care w/attention to gingival hypertrophy, crowding, hypodontia, & delayed tooth eruption

Family/Community

Ensure appropriate social work involvement to connect families w/local resources, palliative care, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Ongoing assessment of need for palliative care involvement &/or home nursing

Palliative care

Per palliative team

Based on needs of affected person
Hospice services if applicable

From: Schinzel-Giedion Syndrome

GeneReviews^® [Internet].

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

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