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Participant 141


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.

 

Female, age 3, with Wieacker-Wolff syndrome

Date of Report

Jun 05, 2020

Description

The participant was found to have limited joint movement (arthrogryposis) prenatally. She has required surgery to restore more flexibility to some of her joints.  She currently has contractures at her shoulders, elbows and hips. She also has deviated fingers and toes, small thumbs, and rocker bottom feet (bilateral vertical talus).

The participant has been diagnosed with low muscle tone (hypotonia), developmental delays, feeding problems and abnormal hip development (dysplasia, subluxations) as well. In addition, she has short stature and some facial differences (hypertelorism, micrognathia, epicanthus).

The participant has been making developmental progress over time and is currently nonverbal.

Symptoms / Signs
  • Limited joint movement (arthrogryposis multiplex congenita)
  • Global developmental delay
  • Speech delay
  • Low muscle tone (generalized hypotonia)
  • Short stature
  • Brain abnormality (cerebral white matter hypoplasia)
  • Skin folds over the corners of the eyes (epicanthus) – may be related to Asian ancestry
  • Increased distance between eyes (hypertelorism)
  • Small jaw (micrognathia)
  • Aspiration – resolved
  • Rocker bottom feet (Bilateral vertical talus)
  • Reduced muscle collagen VI
Current Treatments
  • Gastrostomy tube – feeding difficulties
Prior Treatments
  • Surgery for contractures (bilateral quadriceps release)
Considered treatments
Previously Considered Diagnoses
  • Ullrich congenital muscular dystrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:

Xq11.2 deletion (base pair coordinates: 64,951,692-65,166,933, genome build GRCh38) involving the ZC4H2 gene

Contact

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

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