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Nail-patella syndrome(NPS)

MedGen UID:
10257
Concept ID:
C0027341
Disease or Syndrome
Synonyms: Arthro-Onychodysplasia; Fong disease; NPS; NPS 1; Onychoosteodysplasia; Osteo-Onychodysplasia; Turner-Kieser syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Nail-patella syndrome (22199006); Hereditary osteo-onychodysplasia (22199006); Nail patella syndrome (22199006)
 
Gene (location): LMX1B (9q33.3)
OMIM®: 161200
Orphanet: ORPHA2614

Disease characteristics

Excerpted from the GeneReview: Nail-Patella Syndrome
Nail-patella syndrome (NPS) involves a classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage renal disease (ESRD) occurs in about 5% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Elizabeth Sweeney  |  Julie E Hoover-Fong  |  Iain McIntosh   view full author information

Additional description

From GHR
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.  http://ghr.nlm.nih.gov/condition/nail-patella-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Exostoses
MedGen UID:
452009
Concept ID:
CN117667
Finding
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Glomerulonephritis
MedGen UID:
504340
Concept ID:
CN000099
Finding
Inflammation of the renal glomeruli.
Nephrotic syndrome
MedGen UID:
504341
Concept ID:
CN000100
Finding
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Glomerulopathy
MedGen UID:
506545
Concept ID:
CN117710
Finding
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Microcornea
MedGen UID:
504458
Concept ID:
CN000450
Finding
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Keratoconus
MedGen UID:
504498
Concept ID:
CN000528
Finding
A cone-shaped deformity of the cornea.
Lester's sign
MedGen UID:
429444
Concept ID:
CN008639
Finding
A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.
Microphakia
MedGen UID:
507332
Concept ID:
CN180211
Finding
Abnormal smallness of the lens.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Spina bifida
MedGen UID:
505230
Concept ID:
CN002193
Finding
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Thickening of the lateral border of the scapula
MedGen UID:
322404
Concept ID:
C1834383
Finding
Hypoplasia of first ribs
MedGen UID:
331732
Concept ID:
C1834386
Finding
Disproportionate prominence of the femoral medial condyle
MedGen UID:
320339
Concept ID:
C1834392
Finding
Absent distal interphalangeal creases
MedGen UID:
350011
Concept ID:
C1861349
Finding
Limited elbow extension
MedGen UID:
400659
Concept ID:
C1865003
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Sprengel anomaly
MedGen UID:
504649
Concept ID:
CN000854
Finding
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Joint dislocation
MedGen UID:
504818
Concept ID:
CN001258
Finding
Displacement or malalignment of joints.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Joint swelling
MedGen UID:
504823
Concept ID:
CN001268
Finding
Spina bifida
MedGen UID:
505230
Concept ID:
CN002193
Finding
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Abnormality of pelvic girdle bone morphology
MedGen UID:
428305
Concept ID:
CN002405
Finding
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Skeletal dysplasia
MedGen UID:
505316
Concept ID:
CN002411
Finding
A general term describing features characterized by abnormal development of bones and connective tissues.
Osteoarthritis
MedGen UID:
505348
Concept ID:
CN002503
Finding
Lumbar hyperlordosis
MedGen UID:
505413
Concept ID:
CN002659
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Cubitus valgus
MedGen UID:
428322
Concept ID:
CN002685
Finding
Abnormal positioning in which the elbows are turned out.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Hypoplastic radial head
MedGen UID:
428013
Concept ID:
CN003618
Finding
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Elongated radius
MedGen UID:
505911
Concept ID:
CN005593
Finding
Increased length of the radius.
Patellar aplasia
MedGen UID:
501018
Concept ID:
CN005611
Finding
Absence of the patella.
Glenoid fossa hypoplasia
MedGen UID:
505944
Concept ID:
CN005775
Finding
Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
Antecubital pterygium
MedGen UID:
506314
Concept ID:
CN008619
Finding
Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.
Iliac horns
MedGen UID:
506318
Concept ID:
CN008638
Finding
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.
Exostoses
MedGen UID:
452009
Concept ID:
CN117667
Finding
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
Anonychia
MedGen UID:
108999
Concept ID:
C0600021
Finding
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Concave nail
MedGen UID:
504866
Concept ID:
CN001455
Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Ridged nail
MedGen UID:
504958
Concept ID:
CN001637
Finding
Longitudinal, linear prominences in the nail plate.
Antecubital pterygium
MedGen UID:
506314
Concept ID:
CN008619
Finding
Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Vasculitis
MedGen UID:
369784
Concept ID:
C1963274
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Joint swelling
MedGen UID:
504823
Concept ID:
CN001268
Finding
Biceps aplasia
MedGen UID:
322408
Concept ID:
C1834394
Finding
Triceps aplasia
MedGen UID:
331734
Concept ID:
C1834395
Finding
Quadriceps aplasia
MedGen UID:
371813
Concept ID:
C1834396
Finding
Absence of pectoralis minor muscle
MedGen UID:
401383
Concept ID:
C1868158
Finding
Disproportionate prominence of the femoral medial condyle
MedGen UID:
320339
Concept ID:
C1834392
Finding
Biceps aplasia
MedGen UID:
322408
Concept ID:
C1834394
Finding
Triceps aplasia
MedGen UID:
331734
Concept ID:
C1834395
Finding
Quadriceps aplasia
MedGen UID:
371813
Concept ID:
C1834396
Finding
Talipes equinovarus
MedGen UID:
335852
Concept ID:
C1842988
Finding
Absent distal interphalangeal creases
MedGen UID:
350011
Concept ID:
C1861349
Finding
Limited elbow extension
MedGen UID:
400659
Concept ID:
C1865003
Finding
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Cubitus valgus
MedGen UID:
428322
Concept ID:
CN002685
Finding
Abnormal positioning in which the elbows are turned out.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Hypoplastic radial head
MedGen UID:
428013
Concept ID:
CN003618
Finding
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Elongated radius
MedGen UID:
505911
Concept ID:
CN005593
Finding
Increased length of the radius.
Patellar aplasia
MedGen UID:
501018
Concept ID:
CN005611
Finding
Absence of the patella.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGNail-patella syndrome

Recent clinical studies

Etiology

Jiang S, Zhang J, Huang D, Zhang Y, Liu X, Wang Y, He R, Zhao Y
Int J Mol Sci 2014 Nov 5;15(11):20158-68. doi: 10.3390/ijms151120158. PMID: 25380522Free PMC Article
Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M
Orthop Traumatol Surg Res 2013 Oct;99(6):749-54. Epub 2013 Sep 9 doi: 10.1016/j.otsr.2013.03.031. [Epub ahead of print] PMID: 24029584
Chatterjee M, Chatterjee C
J Indian Med Assoc 2010 Nov;108(11):747-9. PMID: 21510571
Kamath S, Bhagwandas K
Pediatr Dermatol 2010 Jan-Feb;27(1):95-7. doi: 10.1111/j.1525-1470.2009.01051.x. PMID: 20199424
Das CJ, Debnath J
Indian J Pediatr 2009 Oct;76(10):1077. doi: 10.1007/s12098-009-0197-8. PMID: 19907953

Diagnosis

Wang WM, Chen JF, Liu ST, Hsu YJ, Liu YC, Huang SM
Br J Dermatol 2014 Aug;171(2):356-62. Epub 2014 Jul 26 doi: 10.1111/bjd.13051. [Epub ahead of print] PMID: 24720768
Chaturvedi S, Pulimodd A, Agarwal I
Am J Kidney Dis 2013 Dec;62(6):A25-7. doi: 10.1053/j.ajkd.2013.05.027. PMID: 24267390
Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M
Orthop Traumatol Surg Res 2013 Oct;99(6):749-54. Epub 2013 Sep 9 doi: 10.1016/j.otsr.2013.03.031. [Epub ahead of print] PMID: 24029584
Haras B, Vulpoi F, Onose G
J Med Life 2012 Feb 22;5(1):126-9. Epub 2012 Mar 5 PMID: 22574102Free PMC Article
Fernandes GC, Dos Santos Torres U, Funes E, de Toledo RA
J Clin Rheumatol 2011 Oct;17(7):402. doi: 10.1097/RHU.0b013e31823272ed. PMID: 21952482

Therapy

Proesmans W, Van Dyck M, Devriendt K
Nephrol Dial Transplant 2009 Apr;24(4):1335-8. Epub 2009 Jan 15 doi: 10.1093/ndt/gfn725. [Epub ahead of print] PMID: 19147669
Hennessey TA, Backman SB, Meterissian SH, Schricker T
Can J Anaesth 2007 Oct;54(10):835-9. doi: 10.1007/BF03021712. PMID: 17934166
Hari P, Mantan M, Dinda A, Hari S, Bagga A
Pediatr Nephrol 2006 Aug;21(8):1197-9. Epub 2006 Jun 29 doi: 10.1007/s00467-006-0154-y. [Epub ahead of print] PMID: 16807765
Chua HL, Tan LK, Tan HK, Tan AS, Choong HL
Ann Acad Med Singapore 2002 May;31(3):349-52. PMID: 12061296
Finsterer J, Stöllberger C, Wanschitz J, Jaksch M, Budka H
Eur Neurol 2001;46(2):92-5. doi: 50770. PMID: 11528158

Prognosis

Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M
Orthop Traumatol Surg Res 2013 Oct;99(6):749-54. Epub 2013 Sep 9 doi: 10.1016/j.otsr.2013.03.031. [Epub ahead of print] PMID: 24029584
Cohen AH
Adv Chronic Kidney Dis 2012 Mar;19(2):101-6. doi: 10.1053/j.ackd.2012.02.017. PMID: 22449347
López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, Hoover-Fong J, McIntosh I, Tierney E
Am J Med Genet B Neuropsychiatr Genet 2011 Jan;156B(1):59-66. Epub 2010 Nov 2 doi: 10.1002/ajmg.b.31138. [Epub ahead of print] PMID: 21184584Free PMC Article
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R
Genet Med 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. PMID: 20531206
Das CJ, Debnath J
Indian J Pediatr 2009 Oct;76(10):1077. doi: 10.1007/s12098-009-0197-8. PMID: 19907953

Clinical prediction guides

Wang WM, Chen JF, Liu ST, Hsu YJ, Liu YC, Huang SM
Br J Dermatol 2014 Aug;171(2):356-62. Epub 2014 Jul 26 doi: 10.1111/bjd.13051. [Epub ahead of print] PMID: 24720768
Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S
Nephrol Dial Transplant 2014 Jan;29(1):81-8. Epub 2013 Sep 15 doi: 10.1093/ndt/gft359. [Epub ahead of print] PMID: 24042019
López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, Hoover-Fong J, McIntosh I, Tierney E
Am J Med Genet B Neuropsychiatr Genet 2011 Jan;156B(1):59-66. Epub 2010 Nov 2 doi: 10.1002/ajmg.b.31138. [Epub ahead of print] PMID: 21184584Free PMC Article
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R
Genet Med 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. PMID: 20531206
Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, Ha IS, Choi Y, Cheong HI
J Korean Med Sci 2009 Jan;24 Suppl:S82-6. Epub 2009 Jan 28 doi: 10.3346/jkms.2009.24.S1.S82. PMID: 19194568Free PMC Article

Recent systematic reviews

Ioan DM, Maximilian C, Fryns JP
Genet Couns 1992;3(1):25-9. PMID: 1590977

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