Gender and year of birth
Female, 2011
Stella is now diagnosed!
Stella received a diagnosis of Bryant-Li-Bhoj neurodevelopmental syndrome 1 (OMIM #619720) in 2022 after whole genome sequencing through the Karolinska Undiagnosed Disease Program. This was due to a de novo (new, not inherited) missense mutation in the H3F3A gene. If you are interested in reading more about this rare condition there is information for health professionals in PMID 33268356 and 34876591,
Description
Stella was born (premature week 35) with duodenal atresia and urinary reflux. She has major development delays, intellectual (learning, communication, speech, interaction, self-care) as well as physical (growth, motorik, reflexes). She has perception/sensory disorders, e.g. sensitivity for different sounds, texture/materials. She seems to have a good image memory. She has impaired vision. Characteristics/features are large head, wide thumbs, low-placed ears.
Diagnosed 2014 with Development Disorder and Autism, both according to DSM IV.
Symptoms / Signs
- Premature week 35+4 (birth weight 1,6 kg)
- Duodenal atresia, underwent surgery day after birth
- Urinary reflux with 3-5 infections during first 2 years
- Large head circumference (around +2 SD)
- Shorter and thinner than average (more than -2 SD)
- Impaired vision (+7)
- Esophagus reflux with vomiting issues
- Constipation problems, uses laxatives on regular basis
- Constantly uses diaper
- Wide thumbs
- Low-placed ears
- Fairly short, narrow and thin inward-facing feet
- First step at 22 months, poor balance and reflexes
- No speech
- Reduced ability to chew and spit
- Croup
- Susceptible to infection
- Perception/sensory disorders
Current Treatments
- Nexium for esophagus reflux (since July 2020)
- If necessary, Ventolin for croup (1-2 times yearly)
Prior Treatments
- Antibiotics 0-2 years old, prophylaxis for urinary reflux
Considered treatments
- None
Previously Considered Diagnoses
- Tested 2014 for a few specific syndromes (via array) without match
Genetic Variants of Interest
- Underwent a whole genome sequencing in March 2021. Judged to have an unknown ultra-rare syndrome with an unclear diagnosis.
- Full exom sequencing in June 2020 without match
Siblings, age & gender
Bianca, 6 years, female
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Stella appears to be a happy and satisfied girl that likes Disney´s Frozen, her iPad to watch movies and series, music, bathing, her family and to look upside down.
