background participants

Participant 108

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 a skeletal disorder thought to be caused by two variants in the TRIP11 gene

Date of Report

Feb 15, 2019


When the patient was born, she had a small chest, short arms and legs (disproportionate short limbs), and low muscle tone (hypotonia). X-rays showed that she had short ribs, short long bones, and differences in the bones in her back (vertebral and spinal abnormalities) and parts of her long bones (metaphyseal dysplasia). As she has grown, she continues to have short stature. She also has speech delay, gross motor delays, translucent teeth, rhizomelia (shortening of the upper limbs), mesomelia (shortening of the middle parts of the limbs), acromelia (shortening of bones in the hands and feet), and brachydactyly (short fingers and toes).

Researchers believe the patient’s condition may be caused by variants in the TRIP11 gene. Her condition may be a mild form of the condition associated with this gene, achondrogenesis 1A, which is normally a lethal condition in infancy. Research is ongoing to determine more precisely how the variants in TRIP11 may be causing to her symptoms.

Symptoms / Signs
  • Short stature (disproportionate short-limb short stature)
  • Skeletal abnormalities (skeletal dysplasia)
  • Small chest (thoracic hypoplasia)
  • Short bones in arms and legs (rhizo-meso-acromelic limb shortening)
  • Differences in facial features: midface retrusion, depressed nasal bridge, anteverted nares, thin upper lip vermilion
  • Translucent and yellow-brown color teeth
  • Inward curve of the spine (hyperlordosis)
  • Abnormality of the vertebrae (irregular vertebral endplates)
  • Abnormality of bones in pelvis (pelvic girdle bone morphology)
  • Abnormality of the hipbone (acetabulum)
  • Abnormality of the wide portion of the long bone (metaphyseal dysplasia)
  • Short fingers and toes (brachydactyly)
  • Speech delay
  • Motor delay (gross motor delay)
Current Treatments
  • Physical therapy
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Achondroplasia
  • Mild form of spondylometaphyseal dysplasia, Sedaghatian type
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
Autosomal recessive
Chr14:92472282 & Chr14:92469762
c.2038G>T & c.4557+1G>T
p.E680X & intronic

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


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.