background participants

Participant 219

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 4, with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)

Date of Report

Dec 01, 2023


The participant was born at 38 weeks by C-section. The pregnancy was complicated by vaginal bleeding at 6-8 weeks and gestational diabetes. At birth he needed supplemental oxygen for a couple days because his of low oxygen and vomiting while nursing (emesis). At 6 days old, he had jaundice which was treated with exposure to the sun.

At 5 months of age, the participant was noted to have a flat spot on his head (plagiocephaly), which was treated with physical therapy. His head was also stuck twisted to one side (torticollis), which was treated with physical therapy. One month later, he experienced something similar to a seizure (seizure-like event). At 8 months of age, it was determined that he has a brain difference (cavum septum pellucidum). At 10 months, he was diagnosed with eye differences (superior oblique palsy and stigmatism).

At 15 months old, the participant had ear tubes placed. He was also found to have a split uvula (bifid uvula) and skull differences that do not require surgery (metopic ridge and partial closure of the sagittal suture). At 22 months old, he developed some behavioral differences such as biting and chewing his hands and fingers. His appetite also decreased. Two months later, he was diagnosed with having sensory processing disorder. At 3 years old, the participant was diagnosed with autism, as well as speech and developmental delay. More recently, he was diagnosed with dysphasia and has begun dysphasia therapy.

Symptoms / Signs
  • Autism
  • Delayed speech and development
  • Gap between larynx and esophagus (laryngeal cleft)
  • Low muscle tone of chest, abdomen, pelvis, and back (prominent truncal hypotonia)
  • Low muscle tone (hypotonia)
  • Tiredness (lethargy)
  • Delayed speech and language development
  • Autism
  • Sensory processing disorder
  • Night terrors
  • Behavioral differences (aggression, head butting, biting, and hitting)
  • Skull differences (sagittal craniosynostosis, metopic ridge, plagiocephaly)
  • Head twisted to one side (torticollis)
  • Brain differences (cavum septum pellucidum)
  • Jaundice
  • Light pigmentation of the skin (hypopigmentation)
  • Visual impairment (astigmatism)
  • Crossed eyes (strabismus)
  • Widely spaced eyes (hypertelorism)
  • Enlarged ears (macrotia)
  • Otitis media (ear infections)
  • Gap between larynx and esophagus (laryngeal cleft)
  • Low muscle tone of chest, abdomen, pelvis, and back (prominent truncal hypotonia)
  • Loose joints
  • GI issues (gastric dysmotility)
  • Calcium buildup in the testicles (testicular calcification)
  • Flexible flat feet (pes planovalgus)
Current Treatments
  • Fluticasone propionate inhalation
  • Gummy vitamins
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Congenital disorders of glycosylation
  • Fatty acid oxidation disorders
  • Metabolic disorders
  • Microdeletion/microduplication syndromes
  • Myotonic dystrophy
  • Superior oblique palsy
  • Viral infection
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr7: g.117199646_ 117199648del
chr17: g.78190883G>C

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


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