Genetic Disorders

CDKL5 is an extremely rare genetic disorder that causes developmental delays, seizures, and other health problems. There are approximately 200 children worldwide diagnosed with CDKL5.

Tuberous sclerosis is a complex genetic disorder that must be managed by identifying tumors and symptoms early. If your child has been diagnosed with this condition, here is what you need to know about collaborative care.

If you are the parent of a child who has severe kneecap pain, here is what you need to know about the risks for kneecap dislocation and the risks associated with nail-patella syndrome, a genetic disorder of connective tissue.

If you are suffering from kidney complications, here is what you need to know about the warning signs of kidney failure and the connection to genetic disorders.

If your toddler has shown adverse changes in physical development, there could be a risk for a genetic disorder including the onset of Morquio syndrome symptoms.

As a man, if you have been diagnosed with the genetic disorder known as Kennedy's Disease, here is what you need to know about your long term health.

Prader-Willi Syndrome is a genetic disorder that effects many aspects of the human body. One key characteristic is the constant feeling of hunger and the inability to satisfy that hunger.

Less then a year ago a very unique genetic disorder was discovered in French Canadians in Quebec. This disorder is called Mednik Syndrome.

For children who are diagnosed with the genetic disorder, 22q11 Deletion syndrome, it is important to manage health care early in life.

For individuals who are diagnosed with Wolfram syndrome, the developing of hearing impairment can lead to one of the most significant impairments of life quality.

For individuals who suffer from the genetic disorder known as primary ciliary dyskinesia, there are many complications including the risk for recurrent lung infections.

An overview of Basal cell nevus syndrome, also known as Gorlin's syndrome, and the effect on genetic disorders leading to musculoskeletal complications and skin disorders.

Offering an overview of the genetic disorder known as Canavan disease and the impact on children as they grow

Offering an overview of Edwards' syndrome, a genetic disorder at chromosome 18

As a rare genetic disorder, Pompe disease is often confused for a disease associated with muscular dystrophy

Offering an overview of the cause, symptoms and treatment of CCD, Central core Disease

We can rule out the genetic disorder that causes nonstop, torturous hunger, because of one obvious physical trait that Connor McCreaddie has.

Smooth Brain syndrome can lead to a variety of secondary health complications including lymphedema symptoms. Here is what parents need to know about the genetic disorder in their child.

Nail-patella syndrome is a genetic disorder of the connective tissue. Here is what parents need to know about the impact this disorder has upon the vision changes in a child.

There are many causes of aortic valve regurgitation.

If your child has been diagnosed with Bassen-Kornzweig syndrome here is what you need to know about the issues with fat absorption.

If you are suffering from marked loss of reflexes in your lower extremities, the complication may be attributed to this rare disorder.

Tay-Sachs disease is a genetic disorder commonly associated with the Jewish population, but also affects people in other communities.

Klinefelter syndrome, or XXY condition is a genetic disorder that affects males.

Description of how humans can grown horns.

FG syndrome, which is also known as Opitz-Kaveggia Syndrome and Keller syndrome, is a rare genetic disorder

A movie review on the strange and surprising motion picture "Unbreakable"

It describes the dilemma and consequences of marriage that my result in children inherently born with the disease of sickle cell anaemia. However it also reflects on the power of love to hope and live.

When your child has been diagnosed with the genetic disorder known as Patau syndrome, it is important to mange the secondary health issues that may adversely affect life span and longevity into adulthood.

For individuals who suffer from alkaptonuria, the first symptom may be in the discoloration of urine.

As a genetic disorder affecting the live birth of female infants, Aicardi syndrome can lead to significant health complications and early death.

What to expect when your child is born with the rare genetic defect known as AASE syndrome.

As a genetic disorder affecting the connective tissues, individuals with Nail-patella syndrome often realize they have the condition with the initial appearance of unhealthy fingernails and toenails.

As a male dominated genetic disorder, Fabry disease can lead to life altering complications in men.

Ever notice that medical miracles only apply to cancer, emerging from comas, and recovery from heart attacks? What about all those other diseases that are always 100 percent fatal?

Adrenoleukodystrophy (ALD) is commonly known to Americans as "Lorenzo's Oil Disease", named after an 1993 Oscar nominated film starring Susan Sarandon and Nick Nolte. It is based on a family's experience with the disease.