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Participant 184

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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.


Female, age 24, with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia)

Date of Report

Jun 15, 2021


At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development as well as intellectual disability.

At age 7, heart abnormalities (mitral valve prolapse with regurgitation) were identified and, at age 9, the participant was noted to have differences in her facial features (narrow mouth, high palate, upslanted eyes, widely set eyes). She also has a history of overactive thyroid (hyperthyroidism) and brittle bones (osteopenia).

At age 18, the participant had her gallbladder removed through a cholecystectomy procedure, and now has fatty liver disease.

In 2022, the participant began experiencing seizures, which seem to intensify the pain in her joints and her headaches. She underwent an EEG which was normal. She was also diagnosed with cyclic vomiting syndrome, a nerve abnormality (acute cutaneous nerve entrapment syndrome), inflammation of the kidneys (membranous glomerulonephritis), delayed stomach emptying (gastroparesis), and inflammation of the throat (eosinophilic esophagitis).

Symptoms / Signs
  • Delayed speech and language development
  • Motor delay
  • Brain abnormality (Arnold-Chiari type I malformation)
  • Nerve abnormality (acute cutaneous nerve entrapment syndrome)
  • Narrow mouth
  • High palate
  • Upslanted eyes (upslanted palpebral fissure)
  • Widely set eyes (hypertelorism)
  • Difficulty breathing while asleep (obstructive sleep apnea)
  • Overactive thyroid (hyperthyroidism)
  • Low-set nipples
  • Inflammation of the kidneys (membranous glomerulonephritis)
  • Low muscle tone (hypotonia)
  • Flexible joints (joint laxity)
  • Brittle bones (osteopenia)
Current Treatments
Prior Treatments
  • Chiari-1 malformation decompression
  • Cholecystectomy
  • Tonsillectomy/adenoidectomy
Considered treatments
Previously Considered Diagnoses
  • Chromosomal abnormalities
  • Collagen disorders
  • Fibrillin-1 syndromes
  • Loeys-Dietz syndrome
  • Metabolic disorders
  • Microdeletion/microduplication syndromes
  • Mitochondrial disorders
  • Myotonic dystrophy
  • Smith-Magenis syndrome
    Williams syndrome
  • Velo-cardio-facial syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change

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


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