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Participant 189

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Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 10 with musculoskeletal anomalies, congenital heart disease, dysmorphic facial features, and global developmental delay

Date of Report

Oct 29, 2021


The participant was born full-term with multiple congenital anomalies. These included dysmorphic facial features, musculoskeletal anomalies, vision abnormalities (strabismus), and a heart defect (Tetralogy of Fallot). Her heart defect was repaired shortly after birth. As a newborn, she was diagnosed with bilateral sensorineural hearing loss. She also had difficulty eating due to weakened tissue in the walls of the larynx (laryngomalacia) and experienced reflux (GERD). She was given thickened feeds to help with this.

Around age 4, the participant began having absent spells. She then had a normal EEG which ruled out seizures. She has also experienced insomnia, which improved in response to creating a dark environment.

The participant has a history of global developmental delays. She has received physical, occupational, and speech therapies for support. She needs the support of a walker for movement, and can dress herself with some support. She has lost all of her hearing in the right ear and wears a hearing aid in her left ear. Her speech is improving, and she is able to express her wants and needs and have short conversations.

Symptoms / Signs
  • Musculoskeletal anomalies (short foot, C2/C3 vertebral fusion, appendicular hypotonia, tibial torsion)
  • Congenital heart defects (Tetralogy of Fallot, pulmonary insufficiency)
  • Craniofacial anomalies (epicanthus, high forehead, prominent nasal bridge, down slanted palpebral fissures, downturned corners of mouth, euryblepharon)
  • Delayed speech and language development
  • Eye anomalies (strabismus, deeply-set eyes, ptosis)
  • Ear anomalies (low-set and posteriorly rotated ears, extra lobe on right ear, prominent antihelix, aplasia of the semicircular canal)
  • Bilateral sensorineural hearing loss
  • Respiratory anomalies (laryngomalacia, lateral clavicle hook)
  • Reflux (GERD)
  • Chronic constipation
Current Treatments
Prior Treatments
  • Miralax – constipation
  • Prevacid, Omeprazole – GERD
Considered treatments
Previously Considered Diagnoses
  • Cardiospondylocarpofacial syndrome
  • CHARGE syndrome
  • DiGeorge syndrome
  • Down syndrome
  • Wildervanck syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr15:g.35747015_ 35747017del & g.35674089C>T
c.323_325del & c.596G>A
p.Glu108del & p.Cys199Tyr

If this participant sounds like you or someone you know, please contact us!


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