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.

Iliac horns

Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.


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PMID (PMCID)
30084575
 MALE Adult
Schizophrenia and Nail Patella Syndrome: The Dopamine Connection.
Nashelsky Zolotov L, Reinstein E.
Isr Med Assoc J. 2018;20(8):496-498.
Nail-patella syndrome (NPS) is characterized by changes in the nails, knees, and elbows, as well as the presence of iliac horns detected by X-ray of the pelvis.
28538898
(5429124)
 MALE Adult
Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
Bunjes BG, Fernandes MDCF.
An Bras Dermatol. 2017;92(2):273-274.
The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns.
26872454
 MIXED_SAMPLE Adult
Management of patellar problems in skeletally mature patients with nail-patella syndrome.
Louboutin L, Wascher D, Neyret P.
Knee Surg Sports Traumatol Arthrosc. 2017;25(10):3012-3016.
Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns.
26872454
 MIXED_SAMPLE Adult
Management of patellar problems in skeletally mature patients with nail-patella syndrome.
Louboutin L, Wascher D, Neyret P.
Knee Surg Sports Traumatol Arthrosc. 2017;25(10):3012-3016.
Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns.
26130880
 OTHER
Radiographic findings in the nail-patella syndrome.
West JA, Louis TH.
Proc (Bayl Univ Med Cent). 2015;28(3):334-6.
Nail-patella syndrome is a rare disorder characterized classically by the tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns.
24029584
 FEMALE Child
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature.
Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M.
Orthop Traumatol Surg Res. 2013;99(6):749-54.
Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns.
16902295
 FEMALE Adult
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.
Itin PH, Eich G, Fistarol SK.
Dermatology. 2006;213(2):153-5.
Nail-patella syndrome (NPS, OMIM 161200) is an autosomal dominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the radial head.
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.
10643004
 FEMALE Adult
Nail-patella syndrome and IgA nephropathy in a Chinese woman.
Chuah KL, Tan PH, Choong HL, Lai D, Chiang G.
Pathology. 1999;31(4):345-9.
Nail-patella syndrome (NPS), also known as hereditary onycho-osteodysplasia, is an autosomal dominant pleiotropic disorder characterized by nailbed dysplasia or hypoplasia, absent or hypoplastic patellae, iliac horns and deformation or luxation of the radial head.
10624918
 FEMALE
Nail-patella syndrome: an incidental finding from abdominal discomfort.
Lane JE, Walker AN, Chandler PW, Gresen KW.
South Med J. 1999;92(12):1213-5.
An abdominal plain film revealed bilateral posterior iliac horns, pathognomonic of nail-patella syndrome.
9134300
 FEMALE Infant, Newborn
Congenital deficiency of the fibula with ipsilateral iliac horn and absence of the kidney.
Haga N, Lee K, Nakamura K, Okazaki Y, Mamada K, Kurokawa T.
Clin Dysmorphol. 1997;6(2):177-80.
'Iliac horns' are bony projections extending posterolaterally from the ilium and considered to be pathognomonic of 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.
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.
Imaging of "iliac horns" in nail-patella syndrome.
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.
2682987
 FEMALE Adult
[Nail-patella syndrome. A case report and review of the literature].
Wagner J.
Rontgenblatter. 1989;42(10):441-6.
We report on the case of a 36 year-old woman with nail-patella syndrome that was detected following a plain roentgenogram of the abdomen showing iliac horns.
3562114
 MALE Adult
Computed tomography of "iliac horns" in hereditary osteo-onychodysplasia (nail-patella syndrome).
Reed D, Nichols DM.
Pediatr Radiol. 1987;17(2):168-9.
Posterior "iliac horns" are a common finding in nail-patella syndrome and when present are considered pathognomonic of the disease.
3562114
 MALE Adult
Computed tomography of "iliac horns" in hereditary osteo-onychodysplasia (nail-patella syndrome).
Reed D, Nichols DM.
Pediatr Radiol. 1987;17(2):168-9.
Computed tomography of "iliac horns" in hereditary osteo-onychodysplasia (nail-patella syndrome).