Nail-patella syndrome

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

Nail dysplasia

The presence of developmental dysplasia of the nail.


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PMID (PMCID)
29664512
 MALE Child
Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
Goecke C, Mellado C, Garcia C, Garcia H.
Rev Chil Pediatr. 2018;89(1):107-112.
Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities.
28335748
(5363042)
 FEMALE Young Adult
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K.
BMC Nephrol. 2017;18(1):100.
Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy.
16085960
 MIXED_SAMPLE Adult
[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
Szczaluba K, Obersztyn E, Kozlowski K, Ravazzolo R, Golabek B, Mazurczak T.
Med Wieku Rozwoj. 2005;9(2):195-203.
The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities.
12645195
 FEMALE Adult
Nail-patella syndrome with renal involvement and antecubital pterygia.
Lee JJ, Chiu YW, Kuo YT, Chen HC, Hwang SJ.
J Formos Med Assoc. 2002;101(9):655-60.
Nail-patella syndrome (NPS) is a rare, autosomal-dominant hereditary disorder characterized by nail dysplasia and multiple osseous abnormalities.
12061296
 FEMALE Adult
The course of pregnancy in a patient with nail-patella syndrome.
Chua HL, Tan LK, Tan HK, Tan AS, Choong HL.
Ann Acad Med Singapore. 2002;31(3):349-52.
A 25-year-old patient presented in her first pregnancy with nephrotic syndrome associated with characteristic bone abnormalities and nail dysplasia and was later diagnosed to have nail-patella syndrome.
8708050
 MALE Adult
Imaging of "iliac horns" in nail-patella syndrome.
Karabulut N, Ariyurek M, Erol C, Tacal T, Balkanci F.
J Comput Assist Tomogr. 1996;20(4):530-1.
Hereditary osteo-onychodysplasia, also known as the nail-patella syndrome (NPS), consists of a clinical tetrad of nail dysplasia, hypoplastic or absent patella, radial head dislocation, and iliac horns.
8545188
 FEMALE Child
Clavicular horn: another bony projection in nail-patella syndrome.
Yarali HN, Erden GA, Karaarslan F, Bilgic SC, Cumhur T.
Pediatr Radiol. 1995;25(7):549-50.
Nail-patella syndrome is an uncommon inherited disorder characterized by nail dysplasia, iliac horns, and knee and elbow abnormalities.
8154501
 MIXED_SAMPLE Adult
Inherited diseases of the glomerular basement membrane.
Bodziak KA, Hammond WS, Molitoris BA.
Am J Kidney Dis. 1994;23(4):605-18.
Nail-patella syndrome is characterized by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy.
3225824
 MIXED_SAMPLE Adult
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ.
J Med Genet. 1988;25(10):682-6.
Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy.