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Is nail patella syndrome recessive?
No, it is not recessive. Nail-patella syndrome is inherited in an autosomal dominant manner. This means that possession of only one copy of the defective gene is enough to cause disease. When a parent has nail-patella syndrome each of their children has a 50% chance to inherit the disease-causing mutation. A new mutation causing nail-patella syndrome can also occur, causing disease in a person with no family history. This is called a sporadic occurrence and accounts for approximately 20% of cases of nail-patella syndrome. The children of a person with sporadic nail-patella syndrome are also at a 50% risk of developing signs of the disorder.
Who discovered Nail Patella syndrome and when?
Scientist fong 1897
How common is nail patella syndrome?
The population is as far as 1 in 50,000 people suffer from yellow nail disease but the same is increasing and has reached to the limit of 1 per 30,000.
Is Nail-patella syndrome hereditary?
Nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD), is a rare, genetically determined disease, which is inherited as a dominant trait. So yes, it is hereditary.
What other problems could people with nail-patella syndrome have?
Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis ), or corneal problems such as glaucoma.
How long do people with nail-patella syndrome live?
They live normal, long, healthy lives. The syndrome has been in my family for generations, and many live 85 years ore longer.
Is nail patella a dominant trait?
no
Symptoms or characteristics of nail patella syndrome?
well i have nail patella syndrome and some characteristics that i have are missing fingernails, my fingers are crooked and look weird, i cannot straiten my arms past a 90 degree angle, i have kneecaps the size of a dime and i am 14 years old, i have a slight sign of scoliosis in my lower back near my Si joint, there is something definitely wrong with my hips but my doctor cannot find out why they have been causing me so much pain, I'm missing my 9th chromosome and my corpus callosum (part of the brain) and ya that's about it!
What are the symptoms of nail-patella syndrome?
The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease.
How painful is femoral patella syndrome?
Femoral patella syndrome for me is extremely painful because I am a track runner so when ever I run I just kills. But it could be different for any one.
How did nail patella syndrome got its named?
back in the day at the plase of mount Rushmore ther was a great and powerfull shogun by the name of yoshimitsu katakana. he descoverd the symptomes and and asked his friends what he should name it so they decided to name it after some American dude by the name pf Juan Carlos Santana Patella.
What is traction apophysitis distal patella pole?
Sinding-Larsen-Johansson syndrome.
