The world of Nail Patella Syndrome can be scary and intimidating at times for yourself, your child, and your family. While most of the time, NPS is genetic and passed down from a parent, there are also times when it presents spontaneously and your child may be the first one to have it in the family. In any of these cases, having a child with NPS may leave you questioning what to do? Diagnoses and treatments change every year and likely the healthcare world is vastly different from when you were a child.
First things first, find a healthcare professional who knows what you’re talking about. Nail Patella Syndrome is not common, it is a rare disease. More and more clinicians are becoming aware of rare diseases; however, it will continue to take time. And heck, even if your healthcare professional does know about it, that doesn’t necessarily mean they will know which direction to go in regards of treatment. They will likely use the best evidence out there (which is, again, lacking) to provide the most adequate treatment. My hope is that you can use this article (as well as the others) as a resource when it comes time to talk to your physician, PT, other clinicians!
As a physical therapist, we are taught about many developmental impairments that may delay or impair function in children. Of course, NPS is not one of the main syndromes we focus on; however, as a profession, we focus less on the medical diagnosis and more on the functional impairment based diagnosis. We consider the background of what is going on medically, make sure we are aware of any precautions or restrictions, and then treat each individual appropriately. As we are all different human beings, it is important to remember that no child with one syndrome will present identical to another child with the same syndrome. In fact, there may even be times when one child may present more similarly to a child who has a different medical diagnosis. It is important to consider this and then move onto our specialty and focus on functional movements.
Here are a few things to keep in mind when working with a child with Nail Patella Syndrome (Fong Disease):
Clubfoot or “Pseudo-clubfoot”: Pseudoclubfoot ? This may just have been made up by me just now – but I believe it is really a thing. Basically, it may appear similar to clubfoot, but by definition and presentation, it is actually anatomically different. You see, clubfoot (congenital talipes equinovarus) presents with foot deformities where the mid foot and forefoot are medially spun in regards to the hindfoot. Muscle contractures may be present in this, but it may also depend on how severe clubfoot is and whether it is a fixed deformity or flexible. A great link that provides some insight on clubfoot is seen here: https://www.orthobullets.com/pediatrics/4062/clubfoot-congenital-talipes-equinovarus
Typical clubfoot is treated more with the Ponseti method. Other deformities (as I call “pseudoclubfoot”) may appear like clubfoot with abnormalities at the foot and ankle; however, the rotational component may be coming from higher up at the tibia or femur. This is important to recognize early as it can drastically change medical and physical treatment as well as improve the outcome for a child. Treatments here can range from very conservative- just letting the child grow up and hope the cartilage and bones naturally align (if it is not that severe), to casting, to other surgical repair or external fixation. Again, if the rotation is coming from somewhere other than the foot, it is important to recognize this early and perform appropriate clinical tests (tibial torsion test, femoral ante/retroversion test) to determine the best treatment. Check out this link for other rotational deformities you may see!
Toe walking – This may be present and may be for a variety of reasons. Whether it be due to a contracture (muscle shortening), neurological, or by choice, the best thing to do here is to talk your physician and physical therapist. Surgery may be an option, but likely conservative treatment will be chosen first pending the severity. Again, this is a very case-by-case basis.
Congenital Hip Dysplasia – Some children may be born with their hips already dislocated or just very unstable and on the verge of dislocating. Keep in mind, this may not be present initially at birth. It may take a few appointments to realize this – therefore, it is important to take precautions as necessary (proper swaddling and positioning, etc) to decrease the risk of any potential dislocations.
Small or absent kneecaps – Alike to everything else, this should be looked upon on a case by case basis. With no kneecaps, this will generally make the legs, quads specifically, very weak as there is more force required to straighten the leg. Even with underdeveloped kneecaps, it may be difficult to build muscle mass in the quads due to the decreased amount of force able to be placed through the muscle and tendon which then attach to the kneecap. Just because your kneecap is missing/small does NOT mean you cannot walk. Please don’t think this! It may be difficult, sure, but everyone is different! Talk to your physician and PT about this!
One of the biggest takeaways from these numerous lower body deformities .. Does it affect their FUNCTION? This is something specifically that you will discuss with a physical therapist, as again, our goal is to look at the overall functional mobility. One impairment doesn’t mean someone can’t do something. It simply means that we need to find a way to make it work. Our bodies are amazing things and are able to adapt and create patterns without us understanding why/how.. Don’t give up hope!
Another huge takeaway is checking to see if your child is hitting the normal developmental milestones. This is important to discuss with your physician.
Of course having a child who is in braces, casts, etc. for part of their childhood or undergoing another specific treatment may be delayed in crawling, walking, or other milestones. The good news is that generally there is no cognitive delay or impairment associated with NPS, meaning many of those milestones may be delayed due to physical impairments, but likely the child will catch up. And, of course, they won’t be “behind” in cognition due to NPS. Check out more about milestones HERE.
I hope this gives a little insight into what to think about when having a child and/or raising a child with NPS. Remember – everything should be a case by case basis. Nobody with NPS presents the same, and some may have very mild deformities that don’t limit a child at all! Don’t define yourself or your child based on a syndrome!
Be sure to check out a few of my other posts on NPS and stay tuned for more in regards to pediatrics! And, as always, if you have any questions, suggestions, or comments – feel free to message or email me! 🙂
Until next time,