Nail-patella syndrome

Nail-patella syndrome

Infobox_Disease
Name = Nail-patella syndrome


Caption = Nail of a patient the nail-patella syndrome
DiseasesDB = 8773
ICD10 = ICD10|Q|87|2|q|80
ICD9 = ICD9|756.89
ICDO =
OMIM = 161200
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1546
eMedicine_mult = eMedicine2|derm|813 | MeshName = Nail-Patella+Syndrome
MeshNumber = C05.550.629

Nail-patella syndrome (NPS) is a 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.

ee also

* LMX1B

External links

* [http://www.medstudents.com.br/raredi/raredi3.htm Rare Disorders: Stargardt's Disease - Very Detailed Article with Images]

* [http://www.npsuk.org Nail Patella Syndrome UK]

* [http://www.nailpatella.org Nail Patella Syndrome Worldwide]

* [http://www.janwijten.com Nail Patella Syndrome Holland]


Wikimedia Foundation. 2010.

Игры ⚽ Поможем решить контрольную работу

Look at other dictionaries:

  • Nail–patella syndrome — Classification and external resources Nail of a patient with nail patella syndrome ICD 10 Q …   Wikipedia

  • Nail-Patella Syndrome — Le Nail Patella syndrome est une maladie génétique qui se caractérise par l atteinte des ongles, des genoux, des coudes et des ailes iliaques. Onycho ostéo dysplasie L atteinte de l ongle est la plus constante : ongle absent, hypoplasie ou… …   Wikipédia en Français

  • Nail-patella syndrome — Le Nail Patella syndrome est une maladie génétique qui se caractérise par l atteinte des ongles, des genoux, des coudes et des ailes iliaques. Onycho ostéo dysplasie L atteinte de l ongle est la plus constante : ongle absent, hypoplasie ou… …   Wikipédia en Français

  • Nail-patella syndrome — An hereditary condition characterized by abnormally formed or absent nails and underdeveloped or absent kneecaps (patellae). Other features include: {{}}Iliac horns Abnormality of the elbows interfering with full range of motion (pronation and… …   Medical dictionary

  • Nail-Patella syndrome — Le Nail Patella syndrome est une maladie génétique qui se caractérise par l atteinte des ongles, des genoux, des coudes et des ailes iliaques. Onycho ostéo dysplasie L atteinte de l ongle est la plus constante : ongle absent, hypoplasie ou… …   Wikipédia en Français

  • nail-patella syndrome — ▪ pathology       rare hereditary (autosomal dominant) disorder characterized by small fingernails and toenails that show a tendency to split; small or absent kneecaps (patellae); underdevelopment of parts of the knee, elbow joint, and shoulder… …   Universalium

  • Nail disease — or disorder Classification and external resources Onychia without granuloma ICD 10 L …   Wikipedia

  • Nail clubbing — Clubbing Clubbing of the fingernail. The red line shows the outline of a clubbed nail. ICD 10 R68.3 ICD 9 …   Wikipedia

  • Patella (os) — Rotule (os) Pour les articles homonymes, voir Rotule (homonymie). Une rotule humaine gauche …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”