Nail-patella syndrome

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Nail-patella syndrome Classification and external resources
ICD-10	Q87.2
ICD-9	756.89
OMIM	161200
DiseasesDB	8773
eMedicine	ped/1546  derm/813
MeSH	C05.550.629

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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.

See also

• LMX1B

External links

• Rare Disorders: Stargardt's Disease - Very Detailed Article with Images

• Nail Patella Syndrome UK

• Nail Patella Syndrome Worldwide

v • d • e Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
Phakomatoses	Abdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Neurofibromatosis (type I, type II) - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease
Due to known exogenous causes	Fetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systems	facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome) short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome) limbs (Adducted thumb syndrome, Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association) overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome) combined/other Ablepharon macrostomia syndrome - Alport syndrome - Bardet-Biedl syndrome - Branchio-oto-renal syndrome - Donohue syndrome - Fraser syndrome - Keutel syndrome - Marfan syndrome - Timothy syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zellweger syndrome - Zimmerman-Laband syndrome - Zori Stalker Williams syndrome
Other	spleen: Asplenia - Splenomegaly endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst Conjoined twins - Cowden syndrome - Hamartoma - Impossible syndrome - Situs inversus

fr:Nail-Patella syndromesr:Наил-патела синдром

fi:Nail-patella-syndrooma

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .