PhenomeGene — Human Disease Gene Website SeriesWDR4

Management

Management is supportive and multidisciplinary, tailored to organ system involvement.

Galloway–Mowat Syndrome type 6 – GAMOS6

Renal Care:
•    Sodium-restricted diet; careful protein management
•    Albumin infusion, nutritional supplementation
•    Diuretics for edema
•    Antibiotics for infection risk
•    Corticosteroids and immunosuppressants are generally ineffective
•    Dialysis often required with progression to renal failure
•    Kidney transplantation as long-term option

Neurological Management:
•    Antiepileptic medications individualized to patient profile
•    Physical therapy, occupational therapy, feeding support
•    Early intervention to optimize developmental outcomes

General Support:

•    Management of gastrointestinal issues including tube feeding if required
•    Surveillance for progression of renal disease
•    Genetic counseling for families

Microcephaly, Growth Deficiency, Seizures, and Brain Malformations – MIGSB

Neurological:
•    Management of refractory seizures with multi-drug regimens
•    Physical therapy for spasticity and contractures
•    Vision support for optic atrophy
•    Comprehensive developmental support

Growth & Nutrition:
•    Caloric optimization, feeding therapy; tube feeding as needed
•    Monitoring of bone growth and musculoskeletal complications