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Headshot of participant with DiGeorge syndrome and other symptomsMale, age 8 Caucasian with features of DiGeorge syndrome. DiGeorge syndrome is a condition that can cause multiple medical problems, including heart defects, poor immune system function, a cleft palate, and delayed development. DiGeorge syndrome is also known as 22q11.2 deletion syndrome and velocardiofacial syndrome, and is typically caused by a deletion on chromosome 22.

The participant’s mother and sister are similarly affected, but testing for the deletion on chromosome 22 has been negative.

Date of Report April 14, 2016
Description 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
Previously Considered Diagnoses 22q11.2 deletion syndrome (also known as velocardiofacial syndrome and DiGeorge syndrome)
Genetic Variants of Interest Clinicians and researchers are investigating the following genetic change to see if it is causing the patient’s symptoms:
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
TBX2* autosomal dominant chr17:59477596 NM_005994.3 c.59G>A p.R20Q
p.Arg20Gln
*Database Links:
GeneCards: GC17P061399 NCBI Gene: 6909 OMIM: 600747 UniProtKB/Swiss-Prot: Q13207
Photograph Photo of Participant age 8 with sister age 5(Source: http://abc11.com/health/duke-making-strides-to-identify-rare-diseases/1236523/)
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