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Disease Profile
Nail-patella syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q87.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NPS 1; Onychoosteodysplasia; Turner-Kieser syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;
Summary
Nail-patella
Nail-patella syndrome is caused by genetic changes (pathogenic variants or
Symptoms
Most people who have nail-patella syndrome have kneecaps that are small, absent, or irregularly shaped. This can cause problems such as frequent kneecap dislocation or early-onset
Changes in the
Other less common symptoms may include gastrointestinal problems such as constipation or irritable bowel syndrome. There may be nerve (neurological) problems affecting the hands and feet, such as reduced sensitivity to pain and temperature, numbness, tingling, or burning sensations. The hands and feet may be unusually cold, even in warm weather. Dental problems may include weak, crumbling teeth and thin dental enamel.[2][4]
People with nail-patella syndrome are at a higher risk to develop increased pressure in the eye (
The symptoms associated with nail-patella syndrome can vary widely, even among people in the same family. This concept is called
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Aplasia/Hypoplasia of the patella |
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ] |
0006498 |
Concave nail |
Spoon-shaped nails
|
0001598 |
Cubitus valgus |
Outward turned elbows
|
0002967 |
Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Iliac horns | 0009780 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Ridged nail |
Grooved nails
Nail ridging
[ more ] |
0001807 |
Skeletal dysplasia | 0002652 | |
Thickening of the lateral border of the scapula |
Thickening of the lateral border of the shoulder blade
|
0006650 |
30%-79% of people have these symptoms | ||
Joint swelling | 0001386 | |
Nephrotic syndrome | 0000100 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Proteinuria |
High urine protein levels
Protein in urine
[ more ] |
0000093 |
5%-29% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Glaucoma | 0000501 | |
Glomerulopathy | 0100820 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hematuria |
Blood in urine
|
0000790 |
Hypertension | 0000822 | |
Nephropathy | 0000112 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
1%-4% of people have these symptoms | ||
Absent distal interphalangeal creases | 0001032 | |
Antecubital pterygium | 0009760 | |
Back pain | 0003418 | |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Patellar aplasia |
Absent kneecap
|
0006443 |
Patellar hypoplasia |
Small kneecap
Underdeveloped kneecap
[ more ] |
0003065 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Percent of people who have these symptoms is not available through HPO | ||
Absence of pectoralis minor muscle | 0005255 | |
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
0000006 | ||
Biceps aplasia |
Absent biceps
|
0009783 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Disproportionate prominence of the femoral medial condyle | 0006437 | |
Elongated radius | 0006424 | |
Glenoid fossa hypoplasia | 0006633 | |
Glomerulonephritis | 0000099 | |
Hypoplasia of first ribs |
Small first rib
Underdeveloped first rib
[ more ] |
0006657 |
Hypoplastic radial head | 0003997 | |
Keratoconus |
Bulging cornea
|
0000563 |
Lester's sign | 0009781 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Microphakia |
Small lens
|
0012376 |
Pectus excavatum |
Funnel chest
|
0000767 |
Cause Nail-patella
In rare cases, people who have symptoms of nail-patella syndrome do not have a pathogenic variant in the LMX1B gene. Therefore it is thought that there may be other genes in which pathogenic variants cause nail-patella syndrome.[3] Diagnosis Nail-patella
Testing Resources
Treatment After a diagnosis of nail-patella
Symptoms of nail-patella syndrome affecting the knee and elbow (orthopedic problems) may be treated with Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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