Nail-patella syndrome: Year of the Zebra

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.

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