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Participant 066


UDN Participant 066
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 11, with Wieacker-Wolff syndrome

Date of Report

May 14, 2018

Description

At 7 months, the participant’s parents noticed that she was not sitting or rolling.  By 18 months, she was only babbling and crawling on her stomach. At the age of 2, the participant began to have seizures, which were sometimes associated with fevers.

Currently the participant attempts to speak, but doesn’t have any true words. She uses an iPad to communicate. She needs a wheelchair, but her leg strength has been improving slowly with physical therapy.

The participant also has low tone (hypotonia) and distinct facial features (small jaw (micrognathia), rounded nose (bulbous nose), low-set ears, upslanting eyes (palpebral fissure)).

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Absent speech
  • Seizures
  • Generalized low tone (hypotonia)
  • Spinal cord abnormality (tethered cord)
  • Lower limb muscle weakness
  • Loose joints (joint laxity)
  • Thick hair
  • Upslanting eyes (upslanted palpebral fissure)
  • Astigmatism
  • Eyes turned inward (esotropia)
  • Rounded nose (bulbous nose)
  • Low-set ears
  • Small jaw (micrognathia)
  • Single crease on the palm of the hand (single transverse palmar crease)
  • Thin toenails
  • Abnormal development of the hip (hip dysplasia)
Current Treatments
  • Clonidine – sleeping difficulties
  • Coenzyme Q-10 – suspected mitochondrial condition
  • Keppra, Valium – seizures
Prior Treatments
  • Levocarnitine – suspected mitochondrial condition
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Congenital disorder of glycosylation
  • Lysosomal storage disease
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial disorder
  • Myotonic dystrophy
  • Pitt-Hopkins syndrome
  • Prader-Willi syndrome
  • Rett syndrome
Other Photographs
Genetic Variants of Interest

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

Xq11.2 deletion (base pair coordinates (hg19): 64,171,841-64,267,316, gene involved: ZC4H2)

Contact

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

Disclaimer

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