background participants

Participant 189


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

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

Date of Report

Oct 29, 2021

Description

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:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Unknown
chr15:g.35747015_ 35747017del & g.35674089C>T
NM_080650.3
c.323_325del & c.596G>A
p.Glu108del & p.Cys199Tyr
Contact

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

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.

Top