Is a webbed neck normal?

Webbing of the neck (pterygium colli) is a frequent finding in Turner syndrome, resembling some cases of Klippel-Feil syndrome. This may be corrected surgically, both for functional and cosmetic reasons. Turner syndrome patients typically have a broad chest, with widely spaced nipples and mild pectus excavatum.

Why is my neck webbed?

A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. A 12-year-old female with Noonan syndrome exhibiting a typical webbed neck.

What happens to a person with Turner syndrome?

Overview. Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Can you get rid of a webbed neck?

The lateral approach with a shift of glabrous skin flap to the back, which we performed, allows for effective reduction of the webbed neck, excision of bands of the connective tissue and correction of the low hairline on the side of the neck.

Is Turner syndrome like Down syndrome?

In contrast to Down syndrome, there is no association between Turner syndrome and advanced maternal age [27]. Different karyotypes are associated with varying phenotypic expression. The most prevalent karyo- type in patients with Turner syndrome is 45,X monosomy.

TURNER SYNDROME: MY NECK SURGERY STORY

What disorder causes webbed skin in the neck?

Many children with Noonan syndrome have a short neck , and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck. Between 50 and 70 percent of individuals with Noonan syndrome have short stature.

Which characteristic is commonly associated with Turner syndrome?

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common.

Can Turner syndrome be corrected?

There's no cure for Turner syndrome but many of the associated symptoms can be treated.

How is Mosaic Turner syndrome diagnosed?

A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing. A complete heart evaluation is also part of diagnosis.

What is Noonan syndrome?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

Can you have mild Turner's syndrome?

While 95% of girls with Turner syndrome have short stature, many have few or no other phenotypic features, often resulting in late or missed diagnosis. Mosaicism can occur, leading to a milder presentation and often making recognition of the condition more difficult.

Who is most likely to get Turner syndrome?

Turner syndrome is a genetic condition found in females only. It affects about 1 in every 2,500 girls. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.

What is the difference between Turner syndrome and mosaic Turner syndrome?

In classical Turner syndrome, an X chromosome is completely missing. This affects about half of all people with TS. Mosaic Turner syndrome, mosaicism, or Turner mosaicism is where the abnormalities occur only in the X chromosome of some of the body's cells.

Is Turner syndrome dominant?

Sex. Turner syndrome only occurs in females. Noonan syndrome, sometimes inappropriately called male Turner syndrome, can occur in males or females. It is an autosomal dominant genetic disorder and is not a chromosomal disorder.

Is Turner syndrome a learning disability?

For example, Turner syndrome is a proposed etiology of the nonverbal learning disability – because of reported relative strengths in verbal skills, and relatively weaker nonverbal skills – particularly in arithmetic, select visuospatial skills, and processing speed.

What is the average life expectancy of someone with Turner's syndrome?

Abstract. In a prospective study of 156 female patients with Turner's syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. Sixteen of the patients had a congenital heart anomaly and five of the deaths occurred in this group.

How early can you detect Turner syndrome?

uring pregnancy, Turner syndrome may be diagnosed by chorionic villi sampling (CVS) or after 13 weeks gestation, amniocentesis or even a sonogram requiring further evaluation.

What are the symptoms of mosaic Turner syndrome?

Why do only females get Turner syndrome?

In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, a female with Turner syndrome has only 1 X chromosome. Others may have 2 X chromosomes, but one of them is incomplete.

What race is Turner syndrome most common in?

There are no known racial or ethnic factors that influence frequency of the disorder. In some cases, the disorder is diagnosed before birth or shortly after birth. However, mild cases can remain undiagnosed until later in life and even during adulthood.

Is Turner syndrome life threatening?

Girls and women with Turner syndrome will need to have their heart, kidneys and reproductive system checked regularly throughout their lives. However, it's usually possible to lead a relatively normal and healthy life.

Is Turner syndrome a type of dwarfism?

Turner syndrome is a type of dwarfism that only affects females. In addition to being short in stature, girls with Turner syndrome often have heart defects and their ovaries do not develop normally.

What is Freeman Sheldon Syndrome?

General Discussion. Summary. Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.

What are symptoms of Jacobsen syndrome?

Can Turner syndrome be misdiagnosed?

The discrepancies between the blood and skin karyotypes found in our patients mean that previous cases of Turner's syndrome have been undiagnosed or misdiagnosed. We suggest that in some cases of Turner's syndrome the abnormal cell lines die out in the bone marrow, thereby leaving the 46, XX cell line.