Gender and year of birth
Female, 2013
Description
Ebony is a 9-year-old girl with global developmental delay. She has particular challenges with spoken language and only has very limited speech (severe expressive language delay). She also has challenges regulating her emotions. She has hearing difficulties (high frequency sensorineural hearing loss). She has a small jaw and dental issues including larger front teeth (macrodontia) and overcrowding of her teeth. She has a high narrow palate (roof of her mouth) and big gums (gingival overgrowth). She has multiple problems with her joints including very flexible joints (hypermobile and lax joints), and pain in many of her joints and a sway to her spine (scoliosis). She has a tremor affecting her hand control. She has sleep difficulties (obstructive sleep apnoea).
She has had a skeletal survey (xrays of her bones), echocardiogram (scan of her heart), electroencephalogram (recording of her brain waves), hearing test, metabolic testing, blood, liver, and renal testing, vitamin and mineral profile
Symptoms / Signs
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Global developmental delay
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Delayed verbal language development
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Feeth and jaw problems
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Spine and joint problems
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Sleep difficulties
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Behavioural difficulties
Current Treatments
- Supportive therapies
Considered treatments
N/A
Previously Considered Diagnoses
- KBG syndrome
- CNOT2-related condition
- ZMIZ1- related condition
- Koolen-de-Vries syndrome
- Loeys Dietz syndrome
- Shprintzen Goldberg syndrome
- Au-Kline Syndrome
- SATB2 syndrome
- Robinow syndrome
Genetic Variants of Interest
Ebony has had extensive genetic testing including chromosomal microarray, gene panel, exome sequencing and trio whole genome sequencing.
Siblings, age & gender
Ebony has a younger brother who shares some of her clinical symptoms. Her mother has a history of mild learning difficulties when at school.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
