Here is Irene's story diagnosed with Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL).
Irene’s First visit to the hospital
When Irene first visited the hospital at age 1, she presented facial dysmorphism, dilated cardiomyopathy, and dysplastic right kidney.
At the time of the visit, the doctor found that her mother was diagnosed with euthyroid goiter, before being pregnant with Irene.
Irene’s features presented at birth
When Irene was born, an emergency Caesarean section was done for fetal distress.
At birth, she was suspected of Turner syndrome given her low posterior hairline and webbed neck appearance.
Other features found from test results
Doctors conducted several tests to find her problems and causes.
Her karyotype test result was found normal. However, echocardiography found mildly dilated left atrium and left ventricle, which gradually has resolved. Abdominal sonography has found dysplastic right kidney.
Her X-ray on the neck found fused cervical and thoracic vertebrae, and she had a mild developmental delay.
Clinically she was not obviously dysmorphic but showed pectus carinatum with chest asymmetry, her right scapula smaller than the other, and has overlapping 4th and 5th toe.
Whole exome sequencing
Even with her results of various testings, it was hard to specify from what she was suffering. Irene received whole exome sequencing in December 2020, but no clinically relevant variant was detected in the initial result.
Finally diagnosed with regular reanalysis
After three months, on one fine day of March 2021, Irene was finally diagnosed.
From the day of the initial analysis, the reanalysis system was running and Irene’s genome data was reanalyzed every morning with up-to-date gene & disease evidence.
Irene’s disease was updated on the OMIM database on March 11 and diagnosed on March 13.
Vertebral, cardiac, tracheoesophageal, renal, and limb defects; VCTERL (MIM# 619227)
Variant: Likely pathogenic, NM_016312.3:c.1193_1199dup (p.Gln401SerfsTer150)