This website is intended for patients with X-Linked Hypophosphataemia and their families in the United Kingdom and Ireland, provided by Kyowa Kirin.

Diagnosis checklist on a clipboard

Diagnosis checklist

If you think your child might be affected by XLH it's worth finding out about possible signs and symptoms before talking to your healthcare team.

XLH diagnosis checklist for parents

If you think that your child might be affected by XLH, it's worth finding out more about possible signs and symptoms. The sooner you know if they have XLH, the earlier you can learn about the disease and start treatment. What follows is not meant to replace medical advice or provide a diagnosis – only a specialist can do that – but it can help you focus on things that give you cause for concern in preparation for talking to your healthcare team. And, if you take a copy of this checklist on your phone, it can act as a tool to help you have a conversation with your specialist doctor.

Read more Read less

For children and toddlers

Parents are usually the first to spot things that seem out of the ordinary for their children.

Acting on your instinct can go a long way and it’s best to raise concerns with your family doctor or your local clinic as soon as you can. XLH is a rare condition and, even if you have personal experience of it, it doesn’t follow that someone else will experience it in the same way. If you recognise anything from our checklist that concerns you, jot it down and talk it over with your family doctor. Take this checklist with you, too.

Parents are usually the first to spot things

Do you have any family history of XLH?

Most people inherit XLH from their parents. It’s not always passed on, but a family link should be investigated. Does anyone in your family have a diagnosis of XLH, or symptoms that could be XLH, such as shortness of height and bowed legs?

Visibly bowed legs or knock-knees?

Legs that form a bow shape (the classic rickets appearance) or knock-knees (when a child has a big gap between their feet when standing up straight with knees together) are quite common in children with XLH. 

Does your child have a ‘waddling gait’?

If your child walks with his or her body wobbling from side to side when they are not wearing a nappy, it may indicate the sort of bone problems caused by a lack of phosphate. It may be helpful for a clinician if you are able to take a video of your child walking in this way. Lateness in walking, discomfort and unsteadiness should also be checked out. 

Signs of pain on bearing weight, with discomfort in particular to the knees?

Parts of the body where children with XLH commonly experience pain are the knees, ankles, feet and hips.

Signs of pain or discomfort when being handled?

Older children may cry out or tell you it hurts when being lifted or played with, and this could be caused by bone or joint problems. Infants or toddlers who can’t speak might whine, cry or scream when being lifted or handled. If you start to notice these things, keep a brief diary that says what activities took place, and see if you can identify patterns of when pain is happening. But don’t wait to seek help if your child is in pain.

Does your child seem to be less active than others of his or her age?

Parts of the body where children with XLH commonly experience pain are knees, ankles, feet and hips. The knock-on effect of this is that it may limit children’s mobility and impact on their ability or willingness to join in with school sports or everyday playtime activities.

Is your child small for his or her age compared with other children?

A child with XLH will appear smaller, and is likely to grow more slowly than others in the same age group. 

Is there an irregular shape to your child’s skull?

Bones in the skull can be affected by a lack of phosphate and can take on a misshapen appearance. This can cause headaches and vertigo (dizziness). 

Are there any problems with teeth?

Teeth may be slow to appear in toddlers. Older children may be prone to unexplained dental abscesses and decay caused by a lack of enamel.

Read more Read less
 

Pull out – checklist

  • Family member with XLH
  • Osteomalacia (soft bones)
  • Big wrists and/or knees
  • Delayed growth (short stature)
  • A waddling gait
  • Dental abscesses
  • Bone, muscle or joint pain 
  • Unusual head shape
Read more Read less

Welcome to XLH Link

This website is specifically designed to provide information about X-linked hypophosphataemia (XLH).
Please note that this website does not replace the role of a healthcare professional and it is always recommended that you seek professional medical advice.

Please select from the options below to access content relevant to you:

If you are a registered healthcare professional from outside of the UK please visit the
Kyowa Kirin international site.

 

This website is provided by the pharmaceutical company Kyowa Kirin as a service to medicine.

 

Kyowa Kirin Logo

KKI/UK/XLH/0334
Date of preparation: April 2022

XLH Link

You are about to leave a Kyowa Kirin website

You are leaving the XLH Link website to a site that is not under the control of Kyowa Kirin. Kyowa Kirin is not responsible for the content of any such site or any further link from such site. Are you sure you want to continue?

Yes No

XLH Link - HCP Website

This Kyowa Kirin website is intended for Healthcare Professionals (HCPs) involved in the care of people with X-linked Hypophosphataemia (XLH).



Please confirm you are a healthcare professional

Yes, I am a healthcare professional No, I am not a healthcare professional
We use cookies to ensure that we give you the best website experience. By continuing to use this site, you are agreeing to our use of cookies.