Nail-Patella Syndrome: Symptoms, Complications & Treatment

Instructor: Charity Hacker

I am a nursing instructor with over 20 years of nursing experience and a Masters Degree in Nursing Education.

Have you ever met someone with Nail-Patella Syndrome? Have you ever heard of Nail-Patella Syndrome? Probably not. In this lesson, you will learn all about Nail-Patella Syndrome, including its symptoms, complications, and possible treatments.

What is Nail-Patella Syndrome

Imagine you are a nursing student and have been assigned a case study for the next day. The patient has Nail-Patella Syndrome. You have never heard of this, but you are guessing it has something to do with the nails and the patella, or knee cap. You are on the right track! Nail-Patella Syndrome is a rare disease characterized primarily by malformation or missing nails and knee caps. It is rare because it is found only once in about every 50,000 people. It does not discriminate between men or women, or between races.

Nail-Patella Syndrome is a hereditary disease that has a 50% chance of being passed on if you have the disease. This syndrome also has many other names, they are; Fong disease, hereditary onycho-osteodysplasia, hereditary osteo-onchyodysplasia, Osterreicher Syndrome, pelvic horn syndrome, and Turner-Kieser syndrome. That's a good start, but you are going to need to know a lot more than that to get a good score on the case study. Let's look deeper.

Photographic examples of Nail-Patella Syndrome
Pictures of Nail-Patella Syndrome

Symptoms of Nail-Patella Syndrome

First and foremost, you are wondering how does someone become diagnosed with Nail-Patella Syndrome? In other words, how does the doctor know when someone has the syndrome? A syndrome is a condition characterized by a group of symptoms that occur together. Therefore, doctors can say that a patient has Nail-Patella Syndrome by identifying several key identifying symptoms.

The symptoms of this syndrome include:

  • Abnormal or missing fingernails and or toenails
  • Abnormal or missing patellas, knee caps
  • Abnormal elbow joints, cubitus valgus
  • Growths on the pelvis, iliac horns
  • Increased eye pressure, glaucoma
  • Abnormal kidney function
  • Other possible symptoms include; nerve pain or neuropathy, poor circulation, constipation, difficulty maintaining weight, osteoporosis or thin bones, and a high hair line

However, there are many conditions or syndromes that very closely resemble Nail-Patella Syndrome. These are Small Patella Syndrome, DOOR Syndrome, Coffin-Siris Syndrome, and Meier-Gorlin Syndrome. Genetic testing that identifies a mutation in the LMX1B gene will confirm the specific diagnosis of Nail-Patella Syndrome and rule out the others.

Complications of Nail-Patella Syndrome

All those symptoms listed above sound bad enough, but what can they lead to? Well, regarding the skeletal system Nail-Patella syndrome can cause knee joints to become easily dislocated and other joints to be either stiff or excessively flexible (hyperflexability). It can also cause the spine to become curved, this is known as scoliosis.

Increased pressure in the eyes can cause a disease called glaucoma and even eventual blindness if untreated. Abnormal kidney function can lead to kidney disease or even total kidney failure.

Treatments for Nail-Patella Syndrome

Ok great, so now you know what to look for when assessing your patient, but what can be done about it? There is no cure for the syndrome, but specialized treatments are available to address each of the presenting complications. Treatments vary based on the severity of the symptoms.

It Takes a Village

The healthcare management of a person with Nail-Patella Syndrome requires an interdisciplinary team. What does that mean? It takes a set of very different professionals to work together to provide the necessary care. In this case, a pediatrician (or kid doctor), a nephrologist (kidney doctor), an ophthalmologist (eye doctor), and an orthopeadist (bone doctor). Additional team members often include a geneticist (hereditary specialist), a surgeon, and various therapists.

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