Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome.
Nail Patella Syndrome – StatPearls – NCBI Bookshelf
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What are the causes of nail patella syndrome?
Nail patella syndrome is usually caused by a fault in a gene called LMX1B that’s inherited from one parent. But there isn’t always a family history of nail patella syndrome. In some cases, an LMX1B gene mutation (alteration) occurs for the first time on its own.
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Is nail patella syndrome a disability?
Nail-patella syndrome (NPS) is a multisystemic disorder characterized by significant inter- and intrafamilial variability in clinical manifestations and severity of the disease. Cases can range from mild with no functional impact to severe leading to disability.
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What is nail patella syndrome also known as?
Nail-patella syndrome (NPS), also known as Fong disease or hereditary onycho-osteodysplasia, is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities, although ocular, renal, and neurological involvement …
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Is nail patella syndrome a connective tissue disorder?
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes.
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What is the other name for nail patella syndrome?
No treatment is available for the cutaneous findings of nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD). Associated abnormalities require appropriate care from specialists. ACE inhibitors are used to treat renal disease.
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What is the nail patella syndrome?
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome.
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What type of mutation is nail patella syndrome?
Nail patella syndrome is usually caused by a fault in a gene called LMX1B that’s inherited from one parent. But there isn’t always a family history of nail patella syndrome. In some cases, an LMX1B gene mutation (alteration) occurs for the first time on its own.
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Is nail patella syndrome considered a disability?
Nail-patella syndrome (NPS) is a multisystemic disorder characterized by significant inter- and intrafamilial variability in clinical manifestations and severity of the disease. Cases can range from mild with no functional impact to severe leading to disability.
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Is nail patella syndrome a rare disease?
Nail patella syndrome is a rare genetic condition that can cause problems with the nails, bones and kidneys.
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How many people in the world have nail patella syndrome?
The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.
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What is the other name for nail patella syndrome?
No treatment is available for the cutaneous findings of nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD). Associated abnormalities require appropriate care from specialists. ACE inhibitors are used to treat renal disease.
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Is patellar tracking disorder genetic?
Hereditary onycho-osteodysplasia, also known as nail-patella syndrome (NPS), is a rare genetic disorder that is primarily characterized by poorly developed nails and patella. Patients with NPS frequently suffer from patellar instability that requires surgical management.
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What is the cause of nail patella syndrome?
Nail patella syndrome is usually caused by a fault in a gene called LMX1B that’s inherited from one parent. But there isn’t always a family history of nail patella syndrome. In some cases, an LMX1B gene mutation (alteration) occurs for the first time on its own.
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What type of inheritance is nail patella syndrome?
Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene.
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Is nail patella syndrome considered a disability?
Nail-patella syndrome (NPS) is a multisystemic disorder characterized by significant inter- and intrafamilial variability in clinical manifestations and severity of the disease. Cases can range from mild with no functional impact to severe leading to disability.
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What is kneecap small patella syndrome?
Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic).
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