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Participant 001

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. 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.


Male, age 10, with a heart defect, skeletal anomalies, absent thymus, and other features of DiGeorge syndrome caused by a change in the TBX2 gene

Date of Report

Jun 04, 2018


The patient was born with a cleft lip, cleft palate, atrial septal defect, skeletal abnormalities, and absent thymus with severe T-cell deficiency. At 6 months, he underwent a thymus transplant and was diagnosed with complete DiGeorge syndrome. He later developed inflammation of the thyroid gland with hypothyroidism, followed by hyperthyroidism. At 3 years, he was found to have early learning, communication, and social-emotional delays. At 6 years old, his cognitive ability was average, but he still had delays in verbal, math, and reading comprehension skills. While he does show some autistic behaviors, he does not meet criteria for an autism spectrum disorder. He has been diagnosed with ADHD. His mother and sister have similar, milder symptoms.

Symptoms / Signs
  • Cleft lip and palate (unilateral)
  • Heart defect (atrial septal defect)
  • Absent thymus
  • No functional T-cells
  • Short neck (Klippel Feil anomaly; specific skeletal anomalies include fusion of the posterior elements of C2-C4 and fusion of the vertebral bodies of C3 and C4)
  • One shoulder blade higher than the other (Sprengel deformity)
  • Bent fingers (camptodactyly of the third and fourth fingers bilaterally)
  • Rib abnormalities (fusion of the left 4th/5th ribs and 2nd/3rd ribs)
  • Fair coarse hair
  • Asymmetric pupils (ectopia pupillae)
  • Widely spaced eyes (hypertelorism)
  • Low-set ears and cupped right ear
  • Flat nose (depressed nasal bridge and tip)
  • Short uvula
  • Sandal gap
  • Mild global developmental delay
  • Features of autism
  • ADHD
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • 22q11.2 deletion syndrome (also known as velocardiofacial syndrome and DiGeorge syndrome)
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms (Liu et al. 2018):

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

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


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