Aug 24, 2021
At birth, these patients were found to have cleft palate, which required surgery to repair. Shortly after, they were noticed to have very low muscle tone (hypotonia) in the arms and neck. The younger sister has increased muscle tone in her legs and wears braces at night on both ankles and on her right hamstring. She has also has surgery on her right Achilles to lengthen it and has had a number of rounds of casting on her right ankle.
A skeletal survey was performed on the older sister at 1 year, which showed fusion of the spine. An echocardiogram (ECHO) around this time showed an abnormal mitral valve. X-rays at 8 years showed a 47 degree curvature of the spine. As a result, the patient had to wear a brace for 24 hours a day and recently underwent surgery. Both siblings have sideways curve of the spine (scoliosis) and inward curve of the spine (lordosis), which is causing them difficulty in breathing.
Her sister, age 8, is similarly affected. Multiple pterygium syndrome can cause webbing of the skin, especially around the neck, fingers, elbows, and knees. Other symptoms of this condition include restriction of the joints (arthrogryposis) and a sideways curve of the spine (scoliosis). This syndrome is typically caused by mutations in the CHRNG gene, but testing for mutations in this gene has been negative.
Both sisters also have webbing of the neck and armpits (axillae), bent fingers (camptodactyly), and a small head size (microcephaly). They both have severe restrictive lung disease and the older sister has had severe coughing episodes that last 3 weeks at a time since the age of 9. They both also have small jaws (micrognathia), which is being treated with orthodontic work. The younger sister has milder symptoms in comparison to her older sister. Both girls are developing as expected.
Older sister only:
Younger sister only:
In 2020, clinicians and researchers identified the following genetic changes to be causing the participant’s symptoms:
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.