Miller syndrome is a highly rare disease with only 30 individuals documented in the medical literature, worldwide. Until 2010, the cause of Miller syndrome was unknown.
Both of my children, Heather and Logan Madsen have Miller syndrome. There were only 3 cases listed in the worlds medical journals when Heather was born 40 years ago. The doctors told me it wouldn’t happen again. Three years later, on April Fool’s Day, I gave birth to Logan who also has Miller syndrome. We lived 33 years without knowing the cause of this rare disease.
Miller syndrome affects the development of the face and limbs and also includes many other physical anomalies. The severity of this disorder varies among affected people.
Although both of my children have Miller syndrome, their symptoms vary. We have met other people with Miller syndrome who are affected more severely than Heather and Logan.
Description of Miller Syndrome Symptoms
Children born with Miller syndrome have underdeveloped cheek bones and a very small lower jaw. They often have an opening in the roof of the mouth called a cleft palate, or a split in the upper lip (cleft lip). These abnormalities often cause feeding problems in infants with this disease. The small lower jaw usually restricts the airway, which can lead to life-threatening breathing problems.
People with Miller syndrome often have eyes that slant downward, eyelids that turn out, so the inner surface is exposed, and a notch in the lower eyelids called an eyelid coloboma. Many affected people have small cup-shaped-ears.
They also have mild to severe hearing loss caused by defects in the middle ear, also known as a conductive hearing loss. Miller syndrome does not affect a person’s intelligence, although hearing impairment can delay speech development.
Individuals with Miller syndrome have bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes.
Affected people may also have webbed or fused fingers or toes and abnormally formed bones in the forearms which include the radius and ulnar bones. Also, the lower legs are often affected.
Individuals with Miller syndrome sometimes have defects in other bones, such as the ribs or spine.
Occasional abnormalities include heart defects. Additionally, upper G.I. reflux and or kidney reflux can be present.
Males often have undescended testicles, while females may have uterine anomalies. People born with Miller syndrome also face easily dislocated hips. Furthermore, most affected children suffer from difficult vein access.
Cause of Miller syndrome and Re-occurrence Risk
Miller syndrome is a rare autosomal recessive disease which means that when mom and dad both carry the gene, there is a one in four chance with each pregnancy of having a child with the disease.
In 2010, our family became the first family in the world to have our entire genome sequenced. This groundbreaking research led to the discovery of the Miller syndrome disease-causing recessive gene.
In addition to this, scientists also discovered a completely separate recessive gene which caused the rare lung disease, Primary Ciliary Dyskinesia, PCD, in both of my children.
The risk of both of my children having both of these rare diseases is only 1 in 10 billion!
Source for the Information in this article:
More information:
Dr. Lynn Jorde Describes Miller Syndrome to Medical Students: Video
Watch the KSL news story, How DNA Sequencing Changed the Lives of the First Family Ever Tested