Nail Patella Sydrome

Who Discovered it?

Brief Description

Chatelin was the first to document nail patella syndrome in 1820.

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.

How common is the Disorder?

How was it Identified?

Nail Patella Sydrome is really rare.

History/Background

introdution

The Nail–patella syndrome is inherited via autosomal dominancy linked to aberrancy on human chromosome 9's q arm (the longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for the disorder to be expressed in the offspring, meaning the chance of getting the disorder from an affected heterozygous parent is 50%.

Nail-patella syndrome (NPS; OMIM 161200) is an autosomal dominant condition characterized by the classical clinical tetrad of nail dysplasia, patellar aplasia-hypoplasia, elbow arthrodysplasia, and iliac horns. The nails may be absent, hypoplastic, or dystrophic with ridges, pits, and/or triangular lunulae.

Medicines, therapy, sugery, etc.

Orthopedic surgery may be necessary for congenital clubfoot deformity. Manipulation or surgery may be required to correct hip dislocation. Cataracts are also surgically treated. Medical treatment at early signs of glaucoma prevents progression of the disease to blindness.

Statistics

Who is Affected?

Cure?

There is no cure for nail patella syndrome

Nail Patella Sydrome

This disorder affects males and females equally. It is found throughout the world and occurs in all ethnic groups. The strongest risk factor for nail-patella syndrome is a family history of the disease.

Treatment

From:Kiya Baker

Life Expectancy

Inheritied Gene?

Estimated 8% of people with NPS die from kidney-related complications.

Yes

How is an idividual effected?

Loss of peripheral (side) vision

Blind spots

Need for frequent changes in glasses

Difficulty in adjusting to a dark room

Blurred vision

Sore, reddened eyes

Appearance of halos or rainbows around lights

Severe headaches, nausea and eye pain in rare cases

Dominant or Recessive?

Dominant

Pictures

Cause

Symptoms

Mutation?

How does a person know they have it?

Sex-Linked?

Yes

The most obvious sign associated with nail-patella syndrome is absent, poorly developed, or unusual fingernails.

No it isn't

Description of symptoms

Too Many/ Few Chromosomes?

How is the Disorder Diagnosed?

Various skeletal symptoms may occur. Patients with nail-patella syndrome may not be able to fully straighten their arms at the elbow. This may create a webbed appearance at the elbow joint. Patients may have sideways bent fingers, poorly developed shoulder blades, clubfoot, hip dislocation, unusual neck bones, or scoliosis.

Sources

By genetic testing

* ghr.nlm.nih.gov/condition/nail-patella-syndrome

* www.kellogg.umich.edu/patientcare/conditions/nail-patella.html

* www.nhs.uk/conditions/nail-patella-syndrome/Pages/Introdution.aspx

* www.healthofchildren.com/N-O/Nail-Patella-Syndrome.html

* www.encyclopedia.com/topic/Nail-patella_syndrome.apsx