Rare Disease Education: Nail-Patella Syndrome
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
Zebra of the Week: Nail-Patella Syndrome
Just as coin flip has a 50% chance of falling on heads, so too is the chance of transmission of Nail-Patella Syndrome from parent to child.
As the name implies, its hallmark signs are improper development of the nails, especially on thumbs, as well as malformed or missing kneecaps (patellae). The kneecap issue, along with commonly present issues with the elbows, can limit the range of motion of the limbs and make it harder to perform tasks and activities.
Nail-Patella Syndrome is a genetic disorder that affects approximately one in 50 thousand people and typically runs in families with 90% of people with this Zebra having an affected parent. When suspected, genetic testing for LMX1B mutations confirms the diagnosis. Treatment is directed towards specific symptoms but usually requires coordination between a team of different specialists. Watch the dedicated Osmosis video above for more.
Meet Ava
Ava’s mother held her through the first night after her late-night birth, relieved that all had gone well. The next morning, Ava’s first physical exam revealed she could not extend her arms. This was the beginning of their odyssey with Nail-Patella Syndrome. Ava has since hit milestone after milestone, even winning a basketball free throw contest without being able to extend her arms.
Through SheLift, an organization that empowers women with physical differences to discover confidence and self-esteem, Ava has been buddied up with Natalie. Now, they each have someone to share their story and struggles with. Watch their inspirational experiences above.
More Information on Nail-Patella Syndrome
