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Nail-patella syndrome
From Wikipedia, the free encyclopedia
| ICD-10 | Q87.2 | |
|---|---|---|
| ICD-9 | 756.89 | |
| OMIM | 161200 | |
| DiseasesDB | 8773 | |
| eMedicine | ped/1546 derm/813 | |
| MeSH | C05.550.629 | |
|
LIM homeobox transcription factor 1, beta
|
|
| Identifiers | |
| Symbol | LMX1B NPS1 |
| HUGO | 6654 |
| Entrez | 4010 |
| OMIM | 602575 |
| RefSeq | NM_002316 |
| UniProt | O60663 |
| Other data | |
| Locus | Chr. 9 q34 |
Nail-patella syndrome (NPS) is a very rare genetic disorder that is also referred to as Iliac Horn Syndrome, Hereditary Onychoostedysplasia, Fong Disease or Turner-Kiser Syndrome.
The Nail-Patella syndrome is inherited via autosomal dominancy (see autosomal dominant) linked to aberrancy on human chromosome 9's q arm (q stands for longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for disorder to be expressed in the offspring, meaning that the chance of getting the disorder from an affected parent is 50%. The frequency of the occurrence is 1/50,000. The disorder is linked to the ABO blood group locus.
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. Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Also, some research shows that people with NPS are more prone to glaucoma and scoliosis, due to poorly developed spines.
People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. Signs even vary within a single family with multiple affected members.
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