Syndrome Directory

Noonan Syndrome (sometimes mistakenly called Noonans Syndrome) is so called after Dr. Jaqueline Noonan (a children’s heart specialist who identified the syndrome). Noonan Syndrome is also known as the following:

• Ullrich-Noonan Syndrome
• Male Turner Syndrome
• Female Pseudo-Turner Syndrome
• Pseudo-Ullrich-Turner Syndrome
• Turner syndrome in female with X chromosome
• Familial Turner Syndrome
• Noonan-Ehmke Syndrome
• Turner’s Phenotype, karyotype normal
• and Turner-like Syndrome

Noonan Syndrome is a fairly common congenital (present at birth) genetic disorder which can affect either males or females: as many as 1 in 2,500 children are born with the condition.

What Are The Characteristics Of Noonan Syndrome?

As a developmental disorder, Noonans Syndrome is marked by the following:

• irregular facial characteristics
• webbed and short neck
• shortness of stature
• coronary defects
• deformations of the skeleton
• blood clotting problems
• pectus excavatum (chest indentation)
• eye abnormalities
• delayed puberty
• cryptorchidism in males (undescended testicles)
• language and speech problems
• and learning difficulties.

Noonans Syndrome is one of the more common genetic disorders that is strongly connected to congenital heart problems. It is often difficult to diagnose at an early age.

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Approximately one out of every 10,000-20,000 children are born with Angelman Syndrome. The symptoms of Angelman Syndrome are caused as a consequence of a genetic chromosomal abnormality which affects elements of the nervous system, especially the brain.

Symptoms Of Angelman Syndrome

There are many different symptoms of Angelman Syndrome, some of which are usually present and others that are occasionally present.

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Lobster Claw Syndrome is a severe genetic deformation syndrome which is largely identified through a missing digit on the hand or foot and a resulting pronounced cleft in the affected limb. This cleft (or split as we would commonly call it) makes the hand or foot resemble a lobster claw.

Lobster Claw Syndrome is medically known by several other names including:

• SHFM (Split Hand/Foot Formation)
• Ectrodactyly
• Split and Deformity
• Cleft Hand or (Cleft Foot)
• Ectrodactilia of the Hand (or Foot)
• and Karsch-Neugebauer syndrome.

Perhaps the most commonly used medical term is Ectrodactyly, which is a contraction of two Greek words: ektoma (meaning abortion) and daktylos (meaning finger), literally translated as abortion of the finger.

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Carpal Tunnel Syndrome is a painful condition that affects many. In some cases, the pain and numbness associated with the syndrome can have devastating consequences. It is not uncommon for people diagnosed with Carpal Tunnel to miss an excessive amount of work or to live a decreased quality of life because of the condition. Surgery and lengthy periods of physical therapy are also very common. For others, though, conquering Carpal Tunnel Syndrome is a reality, and it can be for you too if you recognize the condition early and take the proper steps to correct it.

Signs Of Carpal Tunnel Syndrome

The first signs of Carpal Tunnel include tingling and numbness in the hands at night or after the wrists have been in a bent down position. It is during this time that the most progress can be made by non-surgical means to correct the condition and alleviate the discomfort associated with it. Unfortunately, these first signs of trouble are often overlooked.

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Mosaic Turner Syndrome is similar to Turner Syndrome in that it involves the abnormality of chromosomes in girls and accounts for 16 percent of all Turner diagnoses. In a healthy female, two X chromosomes are present in each cell. In Turner Syndrome, only one X is present or there may be two with one being malformed or missing part of its structure. This results in a failure to grow physically and develop sexually. This condition also contributes to several visible defects including a webbed neck, a low hair line at the nape, and an excessive amount of moles among others.

Turner Syndrome And Mosaic Turner Syndrome

In Mosaic Turner Syndrome, some cells may be similar to those found in Turner Syndrome, but others are found to be normal. This decreases the symptoms associated with the condition. Girls with Mosaic Turner Syndrome normally will reach normal height without growth hormone and will not have many of the physical features typically associated with Turner’s Syndrome. Even though the symptoms are not as severe, girls with this condition will normally fail to develop sexually without hormone replacement therapy and most are infertile.

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