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Participant 216

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Female, age 2, with global developmental delay, finger anomalies (thumb and small finger hypoplasia), and a congenital heart defect (moderate VSD) caused by mosaic trisomy 4.

Date of Report

Nov 02, 2023


Participant was born prematurely at 30 weeks 5 days. She was born with restricted growth (IUGR), finger anomalies including right thumb hypoplasia (seen in mosaic trisomy 4), and a congenital heart defect (moderated VSD). She was noted to have skull abnormalities (metopic craniosynostosis, plagiocephaly). She also has some differences in her facial features (broad forehead, triangular shared faced, coarse features, long eyelashes, thick eyebrows that are straight and slanted downward, short palpebral fissures, low set and prominent ears, pinched nose, long and smooth philtrum, micrognathia). Due to these findings, she was followed by a genetics clinic and had a negative chromosomal microarray on blood. Additionally, whole exome sequencing on blood yielded nondiagnostic results.

She started sitting up between 12-13 months of age. At 14 months of age, she was able to scoot on her stomach, roll both directions, and use a pincer grasp. At the time she was not interested in pulling to stand. Additionally, she did not speak any words but did babble. However, currently she can communicate verbally by using small sentences.

Whole genome sequencing on blood was conducted during the UDN evaluation. It yielded nondiagnostic results. However, karyotype on a skin (fibroblast) sample showed mosaic trisomy of chromosome 4. This genetic change was not detected in the participant’s blood.

Symptoms / Signs
  • Congenital heart defect (moderate VSD)
  • Finger abnormalities (thumb and small finger hypoplasia, bilateral small finger clinodactyly)
  • Global developmental delay
  • Skull abnormalities (metopic craniosynostosis, plagiocephaly)
  • Global developmental delay
  • Speech delay
  • Abnormal spaces of the brain (mild prominence of ventricles and subarachnoid spaces)
  • Skull abnormalities (metopic craniosynostosis, plagiocephaly)
  • Small head (microcephaly)
  • Broad forehead
  • Right eye turned inward (right esotropia)
  • Inability to raise right eye (monocular elevation deficiency of right eye)
  • Eyelid abnormality (short palpebral fissures)
  • Farsighted (hyperopia)
  • Browns syndrome of right eye
  • Long eyelashes
  • Thick eyebrows
  • Low set and prominent ears
  • Pinched nose
  • Long and smooth area between nose and upper lip (long and smooth philtrum)
  • Small jaw (micrognathia)
  • Fused teeth
  • Lip tie
  • Tongue tie
  • Triangled shape face
  • Coarse features
  • Hypopigmented streak on right arm by Wood’s lamp evaluation
  • Congenital heart defect (moderate VSD)
  • Abnormal connection of spinal cord (tethered cord)
  • Increased curvature of the spine (scoliosis of the thoracic and lumbar spine)
  • Narrowing of the spinal discs (intervertebral disc narrowing at L1-L2)
  • Underdeveloped right forearm (right grade I radial deficiency)
  • Underdeveloped right thumb (right grade I thumb hypoplasia)
  • Underdeveloped right small pinkie (right small finger hypoplasia)
  • Curving of the pinkies (bilateral small finger clinodactyly)
  • Atypical creases
  • Muscle shrinking of right leg (muscular atrophy of right leg)
  • Lipoma on right inner thigh
  • Small feet
  • Premature puberty (premature adrenarche/pubarche)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndromes
  • Congenital disorders of glycosylation
  • Fanconi anemia
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms: mosaic trisomy 4.


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


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