I have three daughters aged 1,2 and 7. They all have hypermobile joints (fingers, wrists, elbows, knees, ankles) the youngest seems to have the most lax joints, when washing her hands you can feel the movement of joints in her wrists and fingers (she also has tethered cord syndrome). The eldest was suspected of having dyspraxia but on assessment her difficulties were put down to her hypermobility (she has no ankle reflex's, and a duplex kidney system also) She uses adapted cultery and has a pencil gripper and a sit and move cushion. All 3 have blue sclera. They had an assessment together for connective tissue disorder (query EDS). They have now been reffered to a clinical genetics clinic for further assessment.
My questions are:
What is the probability they have EDS?
If they do have this conditions will it have any long term effects on them?
What testing, if any, should I expect them to have?
Will a dx effect them if they ever have children during pregnancy? and could they pass this on in a more severe form?
Is it uncommon for 3 siblings to have these characteristics?
My brother has 2 children his eldest is fine but his baby (5months) also has blue sclera, she is to young for us to know if she will also be hypermobile. I have suspected POTS (positive tilt table test).
I thank you in advance for taking the time to respond to my post.
There are multiple genetic conditions that affect connective tissues. A medical geneticist will perform a physical exam on your children, review their personal histories and your family history in order to provide a more accurate risk assessment and diagnosis. In some cases, genetic testing is performed on blood samples to help classify the specific type or subtype of connective tissue disorder.
A specific diagnosis is necessary to answer to most of your questions, such as how variable are symptoms and what are the long term effects...what is the chance for your grandchildren to be affected..what is the chance for multiple family members to be affected with the same condition, etc. We wish you and your daughters the best.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.