Disease Information for Nail-patella syndrome

Clinical Manifestations
Signs & Symptoms
Absent Nails/Aplasia
Excess Sweating Children
Hyperhidrosis/Chronic sweating excess
Koilonychia/Spoon nails
Nails hypoplastic/dysplastic
Nails pitting
Poikylonychia/nail deformities
Small nails/congenital
Clinical Presentation & Variations
Presentation/Congenital Skeletal disorder Renal problems
Presentation/Congenital Syndromes Renal failure
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Renal function abnormalities (Lab)
URINE Dipstick/Leukocytes Positive
URINE Pyuria
Abnormal Lab Findings - Increased
URINE Leukocytes
URINE Protein (Albumin)
Diagnostic Test Results
BX/Renal Abnormal
BX/Renal Norm HE stain/abn electronmicroscopy
BX/Renal/Glomerular BM thinning zones/electronmicro
BX/Renal/Lamina Densa glomerulus BM/thickened
Xray/Erlenmeyer flask deformity/long bones/Skeletal
Xray/Hypoplastic Patellae
Xray/Iliac deformity/hypoplasic horns
Xray/Malformed Radial heads
Associated Diseases & Rule outs
Associated Disease & Complications
Nail dystrophy
Nail-patella syndrome
Nephrotic syndrome
Patella, dislocating
Renal anomalies
Renal Failure Chronic
Proteinuria in Children
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Bone disorder (ex)
CLASS/Patella disorder (ex)
CLASS/Skeletal (category)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Urologic (category)
Pathophysiology/Gene locus 9q34.1
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Faulty tubularization long bones
Pathophysiology/Hypoplasia patella
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
Disease Fong, Fong Disease, FONG SYNDROME, Hered osteo onychodysplasia, Hereditary onycho osteodysplasia, Hereditary Osteo Onychodysplasia, Hereditary Osteo Onychodysplasias, Nail patella syndrome, Nail patella syndrome (disorder), NPS, NPS1, ONYCHOOSTEODYSPLASIA, Osteo Onychodysplasia Hereditary, Osteo Onychodysplasias Hereditary, Osterreicher Syndrome, Osterreicher Turner, Pelvic Horn Syndrome, syndrome nail patella, Syndrome Osterreicher, Syndrome Pelvic Horn, Syndrome Turner Kieser, Turner Kieser Syndrome, Synonym/Arthro-osteo-onychodysplasia/iliac spurs, Synonym/Congenital absent patellas syndrome, Synonym/Fong syndrome, Synonym/Hereditary onycho-osteodysplasia, Synonym/Turner-Kieser syndrome

A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the patella and congenital nail dystrophy; It is a genetically determined autosomal dominant trait; -----------------------------------------Nail Patella Syndrome; Fong Disease; Hereditary Onychoosteodysplasia (HOOD); NPS; Onychoosteodysplasia; Turner-Kieser Syndrome; Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood; Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns); In addition, some individuals within certain families (kindreds) may have abnormally increased fluid pressure of the eyes (glaucoma); The condition results due to progressive blockage of the outflow of fluid (aqueous humor) from the front chamber of the eyes (open-angle glaucoma); Without appropriate treatment, the gradual increase in fluid pressure may cause increased narrowing of visual fields and eventual blindness; Other eye (ocular) abnormalities may also be associated with NPS; For example, in some affected individuals, the inner margin (pupillary margin) of the colored portion of the eyes (irides) may appear abnormally dark (hyperpigmentation) and "cloverleaf shaped" (Lester iris); Approximately 30 to 40 percent of individuals with NPS may also develop abnormalities in kidney function (nephropathy) that may be apparent during childhood or later in life; Nail-patella Syndrome is inherited as an autosomal dominant trait;---------[NORD 2005]-----


External Links Related to Nail-patella syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)