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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 else can I help you with?
What chromosome is nail patella syndrome found on?
Nail Patella Syndrome is found on chromosome #9. If you search "what chromosome is nail patella syndrome on?" in Google, then it will give you a bunch of websites that have a bunch of info. about it. hope this helps. :-)
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.
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.
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.
Who discovered Nail Patella syndrome and when?
1897
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.
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 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.
What is the treatment for nail patella syndrome?
Treatment for nail-patella syndrome primarily focuses on managing symptoms and complications, as there is no cure for the condition. This may include physical therapy to improve joint function and mobility, pain management with medications, and orthopedic interventions for joint issues. In some cases, surgery may be necessary to correct severe joint deformities or to address associated kidney problems. Regular monitoring by healthcare providers is also important to manage any related health concerns.
Is nail patella a dominant trait?
no
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.
Any famous people with nail Patella syndrome?
Although certainly not world famous, I am a successful composer and choir conductor living in South Africa. I inherited the syndrome from my father, and we have had symptoms in our family for many generations. My life has been perfectly normal, and in spite of my abnormal fingernails I am a gifted pianist with various music degrees and qualifications to my credit. I am also happily married, and have three sons, who do not have the syndrome at all. I do believe in NOT having silly hangups about a condition, which, although visible, has not affected my life negatively to any noticeable degree. Gisela de Villiers.
