Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name『nail–patella』can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.[1]: 666 The severity of these effects varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong diseaseorTurner–Kieser syndrome.[2]
Diagnosis of NPS can be made at birth but is common for it to remain undiagnosed for several generations. While there is no cure available for NPS, treatment is available and recommended.
The skeletal structures of individuals who have this disorder may have pronounced deformities. As reported by several medical doctors, the following features are commonly found in people who with nail–patella syndrome:[3]
AP radiograph showing a hypoplastic patella in NPSAP radiograph of the right iliac crest showing a bony exostosis or posterior iliac horn, which is pathognomonic of NPS
Patellar involvement is present in approximately 90% of patients; however, patellar aplasia occurs in only 20%.
In instances in which the patellae are smaller or luxated, the knees may be unstable.
The elbows may have limited motion (e.g., limited pronation, supination, extension).
Subluxation of the radial head may occur.
Arthrodysplasia of the elbows is reported in approximately 90% of patients.
General hyperextension of the joints can be present.
Exostoses arising from the posterior aspect of the iliac bones ("iliac horns") are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome.
An elbow of a man with nail–patella syndrome (NPS)
This is a view from a different angle of the same man's other elbow
Glaucoma is also closely associated with nail-patella, specifically open-angled glaucoma (OAG). Side effects may include frequent headaches, blurred vision, or total vision loss. This occurs gradually over time and symptoms may not be evident in children.[4]
Nail–patella syndrome is inherited via autosomal dominancy linked to aberrancy on human chromosome 9's q arm (the longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for the disorder to be expressed in the offspring, meaning the chance of getting the disorder from an affected heterozygous parent is 50%. The frequency of the occurrence is 1/50,000. The disorder is linked to the ABO blood grouplocus.[6]
It is associated with random mutations in the LMX1B gene. Studies have been conducted and 83 mutations of this gene have been identified.[7][8][9]
The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Sometimes, this disease causes the affected person to have either no thumbnails or a small piece of a thumbnail on the edge of the thumb. The lack of development or complete absence of fingernails results from the loss of function mutations in the LMX1B gene. This mutation may cause a reduction in dorsalising signals, which then results in the failure to normally develop dorsal specific structures such as nails and patellae.[10] Other common abnormalities include elbow deformities, kidney disease,[11] and abnormally shaped pelvic (hip) bones.[citation needed]
^Aronow, Wilbert S. (2010). "Cardiac Arrhythmias". Brocklehurst's Textbook of Geriatric Medicine and Gerontology. Elsevier. pp. 327–337. doi:10.1016/b978-1-4160-6231-8.10045-5. ISBN978-1-4160-6231-8. Angiotensin-converting enzyme inhibitors ACE inhibitors have been demonstrated to reduce sudden cardiac death in some studies of persons with CHF.24,56
