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Participant 130

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 17 with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas)

Date of Report

Jun 03, 2019


The participant was born with multiple heart abnormalities (coarctation of the aorta, bicuspid aortic valve, ventricular septal defect) and was diagnosed with Wolff-Parkinson-White syndrome at 5 months old. Also at 5 months old, he was diagnosed with acute lymphoblastic leukemia (ALL) and was treated with chemotherapy, total body irradiation, and a bone marrow transplant at 18 months.

At age 7, the participant was found to have multiple abnormal bone and cartilage growths (osteochondromas). He had surgery when he was 13 years old to remove an osteochondroma from his spine, which had been causing temporary paralysis in his legs.

The participant is also very sensitive to the sun and will burn very quickly whenever he is outside.

Since early childhood, the participant has had global developmental delay and currently has moderate intellectual disability and autism spectrum disorder. He has an Individualized Education Program (IEP) at school.

The patient’s history and laboratory findings have led to suspicion that he has a yet unidentified chromosome breakage disorder.

Symptoms / Signs
  • Intellectual disability
  • Anxiety
  • Autistic behavior
  • Repetitive behaviors (stereotypy)
  • Fear of loud sounds (phonophobia)
  • Muscle tone abnormalities (generalized hypotonia, upper limb hypertonia, lower limb hypertonia)
  • Uncoordinated walking (gait ataxia)
  • Overactive reflexes (hyperreflexia in upper limbs, ankle clonus)
  • Abnormalities of eye movement (frequent saccadic intrusions on smooth pursuit)
  • Heart abnormalities (coarctation of the aorta, bicuspid aortic valve, muscular ventricular septal defect, Wolff-Parkinson-White syndrome)
  • Acute lymphoblastic leukemia (ALL)
  • Lower limb asymmetry
  • Short stature
  • Large hands
  • Long fingers
  • Prominent fingertip pads
  • Toe abnormalities (overlapping toe, 2-3 toe cutaneous syndactyly, splayed toes)
  • Abnormal facial features (full cheeks, oval face, sparse and thin eyebrow, medial flaring of the eyebrow, deeply set eyes, downslanted palpebral fissures, wide nasal bridge, bulbous nose, low-set ears, large earlobe, asymmetry of the size of ears, broad philtrum, short philtrum, downturned corners of mouth, narrow mouth, thin upper vermilion, mandibular prognathia, facial asymmetry)
  • Bony growth on the roof of mouth (torus palatinus)
  • Widely spaced teeth
  • Small teeth (microdontia)
  • Benign fat tumors (lipoma)
  • Benign bone tumors (osteochondromas)
  • Skin abnormalities (hyperkeratosis, cutaneous photosensitivity, skin tags, numerous nevi, atypical scarring of skin)
  • Nail abnormalities (small nails, deep-set nails)
  • Liver abnormalities (liver lesions, hepatic steatosis)
  • Kidney abnormalities (duplicated collecting system, multiple renal cysts)
  • Early puberty (precocious puberty)
  • Enlarged breasts (gynecomastia)
  • Low levels of thyroid hormone (hypothyroidism)
  • Insulin resistance
  • High levels of triglycerides in blood (hypertriglyceridemia)
  • Decreased HDL cholesterol concentration
  • Excess calcium in the urine (hypercalciuria)
Current Treatments
Prior Treatments
  • Growth hormone – osteopenia
  • Chemotherapy and total body irradiation – leukemia
Considered treatments
Previously Considered Diagnoses
  • Chromosome breakage disorder
  • Fanconi anemia
  • Microdeletion/duplication disorder
Other Photographs
Genetic Variants of Interest

In 2022, clinicians and researchers identified the following genetic change in SOX5 to be partially causing the participant’s symptoms. Clinicians and researchers are investigating the genetic change in TENM2 to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
Chr12:24048772_ 24048773delTT
see gene page
see gene page
see gene page
see gene page
see gene page

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


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