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List of terms related to Nail-patella syndrome

	Nail-patella syndrome;
	Nail of a patient the nail-patella syndrome
ICD-10	Q87.2
ICD-9	756.89
OMIM	161200
DiseasesDB	8773
MeSH	C05.550.629

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Revision as of 16:59, 17 August 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords:Iliac Horn syndrome; hereditary osteoonychodysplasia; Fong disease; Turner-Kiser syndrome

Overview

Nail-patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail-patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.^[1]^:666 It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia, Fong disease or Turner–Kieser syndrome.^[2].

Historical Perspective

Chatelain first described the syndrome in 1820, and its genetics was first documented by Little in 1897.

Pathophysiology

Genetics

Nail-patella syndrome is inherited in an autosomal dominant pattern.

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.

Differentiating Nail-patella syndrome from Other Diseases

Epidemiology and Demographics

The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.

Diagnosis

Symptoms

Poorly developed fingernails, toenails, and patellae (kneecaps).
The nails may be absent, pitted, rigged, discolored or a small piece of a thumbnail may be found on the edge of the thumb. The area at the base of the nail is triangular instead of usual crescent shape.
Elbow deformities
Some patients are unable to keep their elbow extended or keep their palms up with elbow extended
Abnormally shaped pelvis bone (hip bone) or outgrowths causing no symptoms
Knee may be small, deformed or absent
Some research shows that people with NPS are more prone to glaucoma and scoliosis, due to poorly developed spines.

Physical Examination

Appearance of the Patient

May have pronounced skeletal deformities

Skin

Nail changes:
- Presentation varies from no thumbnail or small piece of a thumb nail at the edge of the finger to minor pitting or discoloration

Eyes

Glaucoma

Extremities

Patellar apalsia nmay be seen
Unstable knees from patellar subluxation
Limited range of motion of elbow joint
Arthodysplasia of the elbow joint may be present
General hyper-extension of the elbow noted
Exostosis from the iliac bones : pathognomic feature of the syndrome
Scoliosis
Scapular apalsia
Cervical ribs may be present
Subluxation of radial head

Laboratory Findings

Blood tests

Raised serum creatinine
Increased BUN
Increased serum urea
Decreased creatinine clearance

Urinalysis

Proteinuria

Treatment

Medical treatment:
- Enalapril plus Losartan can help decrease proteinuria
- No treatment is available for the dermatological manifestations of the disease
Surgical treatment:
- Orthopedic correction for knee deformities

References

↑ Freedberg, et. al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 786-7. ISBN 0-7216-2921-0.

External links

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

Template:Phakomatoses and other congenital malformations not elsewhere classified

Template:WH Template:WS

[Fitz2-1] Freedberg, et. al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 786-7. ISBN 0-7216-2921-0.

[1]

[2]

@@ Line 1: / Line 1: @@
+__NOTOC__
 {{Infobox_Disease |
    Name           = Nail-patella syndrome |
@@ Line 9: / Line 10: @@
    OMIM           = 161200 |
    MedlinePlus    = |
-   eMedicineSubj  = ped |
+   eMedicineSubj  = |
-   eMedicineTopic = 1546 |
+   eMedicineTopic = |
-   eMedicine_mult = {{eMedicine2|derm|813}} |
+   eMedicine_mult = |
    MeshName       = Nail-Patella+Syndrome |
    MeshNumber     = C05.550.629 |
 }}
 {{SI}}
-{{CMG}}
+{{CMG}}{{AE}} {{AN}}
-{{EH}}
+{{SK}}Iliac Horn syndrome; hereditary osteoonychodysplasia; Fong disease; Turner-Kiser syndrome
 ==Overview==
-'''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.
+'''Nail-patella syndrome''' (NPS) is a [[genetic disorder]] that results in small, poorly developed [[nail (anatomy)|nails]] and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail-patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.<ref name="Fitz2">Freedberg, et. al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.</ref>{{rp|666}}  It is also referred to as '''iliac horn syndrome''', '''hereditary onychoosteodysplasia''', '''Fong disease''' or '''Turner–Kieser syndrome'''.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. Page 786-7. ISBN 0-7216-2921-0.</ref>.
+==Historical Perspective==
+Chatelain first described the syndrome in 1820, and its genetics was first documented by Little in 1897.
+==Pathophysiology==
+===Genetics===
 [[Image:autodominant2.jpg|thumb|left|Nail-patella syndrome is inherited in an [[autosomal dominant]] pattern.]]
 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 system|ABO blood group]] [[locus (genetics)|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.
+==Differentiating Nail-patella syndrome from Other Diseases==
+==Epidemiology and Demographics==
+The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.
+==Diagnosis==
+===Symptoms===
+*Poorly developed fingernails, toenails, and patellae (kneecaps).
+*The nails may be absent, pitted, rigged, discolored or a small piece of a thumbnail may be found on the edge of the thumb. The area at the base of the nail is triangular instead of usual crescent shape.
+*Elbow deformities
+*Some patients are unable to keep their elbow extended or keep their palms up with elbow extended
+*Abnormally shaped pelvis bone (hip bone) or outgrowths causing no symptoms
+*[[Knee]] may be small, deformed or absent
+*Some research shows that people with NPS are more prone to [[glaucoma]] and [[scoliosis]], due to poorly developed spines.
+===Physical Examination===
+==== Appearance of the Patient ====
+*May have pronounced skeletal deformities
+====Skin====
+*Nail changes:
+**Presentation varies from no thumbnail or small piece of a thumb nail at the edge of the finger to minor pitting or discoloration
+==== Eyes ====
+*[[Glaucoma]]
+==== Extremities ====
+*Patellar [[apalsia]] nmay be seen
+*Unstable knees from patellar subluxation
+*Limited range of motion of [[elbow]] joint
+*Arthodysplasia of the elbow joint may be present
+*General hyper-extension of the [[elbow]] noted
+*Exostosis from the iliac bones : pathognomic feature of the syndrome
+*[[Scoliosis]]
+*Scapular [[apalsia]]
+*[[Cervical rib]]s may be present
+*[[Subluxation]] of radial head
-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.
+===Laboratory Findings===
+====Blood tests====
+*Raised [[serum creatinine]]
+*Increased [[BUN]]
+*Increased serum [[urea]]
+*Decreased [[creatinine clearance]]
+====Urinalysis====
+*[[Proteinuria]]
+==Treatment==
+*Medical treatment:
+**[[Enalapril]] plus [[Losartan]] can help decrease [[proteinuria]]
+**No treatment is available for the dermatological manifestations of the disease
+*Surgical treatment:
+**Orthopedic correction for knee deformities
+==References==
+{{reflist|2}}
 ==See also==
@@ Line 34: / Line 91: @@
 == 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]
 [[Category:Genetic disorders]]
@@ Line 43: / Line 96: @@
 {{Phakomatoses and other congenital malformations not elsewhere classified}}
-{{SIB}}
 {{WH}}
 {{WS}}


Nail-patella syndrome
Nail of a patient the nail-patella syndrome
ICD-10	Q87.2
ICD-9	756.89
OMIM	161200
DiseasesDB	8773
MeSH	C05.550.629