Due to the complex phenotype patients with WDR35 variants require a multidisciplinary medical care. These include nephrologist, hepatologist, surgeon, neurosurgeon, ophthalmologist, pulmonologist, cardiologist, dentist, neurologist and physiotherapist.
• Surgeon
Surgical correction may be performed in patients with inguinal/umbilical hernias and polydactyly of the hands and feet.
• Neurosurgeon
Head CT examination in affected individuals with dolichocephaly is needed to identify and diagnosed craniosynostosis. Surgery to correct premature suture/sutures synostosis is usually performed in the first year of life.
• Nephrologist
Renal insufficiency is a common feature in patients with WDR35 variants, therefore those patients should be under regular kidney function monitoring. These include renal ultrasound examination, serum creatinine and blood urea concentration, urinalysis to identify polyuria, osmolarity testing on morning urine. Blood pressure should be also monitored.
• Hepatologist
Standard liver ultrasound examination, transaminases and synthetics liver function tests.
• Ophthalmologist
Standard ophthalmologic evaluation including ERG and fundoscopy should be performed at four years of age in order to detect early signs of retinal degeneration.
• Pulmonologist
Standard treatment for patients with recurrent respiratory infections.
• Cardiologist
Standard cardiac examination including ECG and echocardiogram.
• Dentist and orthodontist
Standard treatment for dental anomalies.
• Neurologist and physiotherapist
Appropriate physical and speech therapy are needed for patients with developmental delay.
MRI examination may be also required.
Additional notes: in those patients with end-stage renal disease (ESRD) and end-stage of liver disease (ESLD) an organ replacement therapy is recommended.
In affected individuals with growth deficiency a human growth hormone (HGH) therapy may be considered. Those patients should meet standard HGH treatment criteria.
WDR35