Gender and year of birth
Female, 2015
Description
Total sclerocornea, microcornea, microphtalmia, wolff-parkinson-white syndrome, asymmetrical brain development, macrocephaly, hypotonia, pulmonary emphysema middle lobe of right lung reqruiting surgical removal
Symptoms / Signs
- Because of hypotonia delayed developement: e.g. walking independently requires support of splints.
- Visual impairment, but able to distinguish light and dark and colours.
- Easily fatigued because limited lung capacity.
- Global developmental delay when compared to children her age.
Current Treatments
- Bartimeusschool (special education for children with visual impairment), speech therapy, physiotherapy. Periodically consultations of pediatricians, pulmonary specialist, eye specialist, rehabilitation specialist. Uses splints, a walker and white cane.
Prior Treatments
- Consultation of cardiologist for wolff-parkinson white, pediatrician, pulmonary specialist, ENT specialist, neurologist, geneticist, eye specialist, rehabilitation specialist, speech therapy, physiotherapy, dietician, therapeutic daycare group.
Considered treatments
- Not applicable
Previously Considered Diagnoses
- None
Genetic Variants of Interest
- Trio exoom sequencing: negative, SNP array negative, SOX2 negative, extensive metabolic screen negative, currently awaiting whole genome sequencing
Siblings, age & gender
Not applicable
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
I am F, I am almost always happy and I like listening to music. Making music myself is what I like most. Furthermore, I like lights and all kind of colours. Because of my physical condition is my development delayed compared to children my age.
