What Is ABCD Syndrome?

It actually felt like a joke the first time I saw the name. Why ABCD? I came across this name some years ago while I went through my late uncle`s files. He was a professor of medical sciences, and I was considering a degree in medicine at the time. So I went to his old bookshelf to see what I could salvage from his already dusty and insect-eaten materials. I was going through, and I saw common terms as file titles until I saw this one which shocked me. ABCD. It was written without the ‘syndrome’, and that made it more shocking. It did get my attention. Why would a professor of medical sciences still be dealing with the alphabet? I left all others, sat in the dusty and abandoned house for hours, and studied the file. It was voluminous, with loads of horrid images. Here is an abridged version of my reading that day. Enjoy!

So well, that question on its name and more will be answered soon. ABCD syndrome is a rare genetic disorder that affects skin color, hair color, and intestinal function. The name, ABCD, is an acronym for the main symptoms of the condition. The main symptoms are Albinism, a Black area of hair (lock), Cell migration disorder of the gut`s neurocytes (intestinal dysfunction), and Deafness. So that is where the ABCD comes from. Quite creative, innit? This health condition is caused by changes in the EDNRB gene (Endothelin Receptor Type B) located in the 13th chromosome, inherited in an autosomal recessive manner. So many technical terms to deal with; it gets as simple as ABCD…ABC, rather. It simply means that a mutation in both copies of the gene affected person is needed to cause this condition. The features of ABCD syndrome are similar to those of Waardenburg syndrome. There is no scientific name yet for this condition, however, it can also be called the Waardenburg syndrome because of their similarities.

Why would anyone Have ABCD Syndrome?


So let us talk about its risk factors. This condition is a genetic disorder which anyone with a family history of the Waardenburg syndrome, albinism, congenital intestine dysfunction, inherited deafness, or blindness is at risk. So you want to get more familiar with your family health history? It`s a great idea.

Its Symptoms

The ABCD order will be used to discuss the symptoms, having in mind that those are actually what make the syndrome what it is. ABCD syndrome affects eye color, hair color, the width of eyes, hearing (hearing loss), skin color (patches of white skin). Let`s take a closer look.


Albinism is characterized by pale hair and skin color much lighter than those of the affected person`s parents. Another is the rapid involuntary movement of the eyeballs, known as nystagmus. The eyes would also be highly sensitive to light (photophobia), together with extreme myopia. (shortsightedness), or hypermetropia (longsightedness).

Black Locks

Affected persons have black locks at the temporo-occipital region, along the lines of normal development of skin, and blue or grey irises like those of the blind.

Intestinal Dysfunction

This is evident in poor weight and abnormal bowel movements which affected persons suffer as a result of the disrupted migration of neurocytes of the intestines that lead to agangliosos, so that the intestines get no neural signals and fail to move the food along the digestive tract. How sad. Also called Hirschsprung`s disease, this condition can be diagnosed early after a child is born.


A hearing dysfunction which may lead to complete deafness also occurs.

Hmm, we say as simple as ABC, however, the ABCD syndrome is not a simple one. All these in one person?

So How`s this Syndrome Diagnosed?

Its diagnosis is based on x-ray or Magnetic Resonance Imaging of the abdominal organs, and hearing testing. However, care should be taken, as misdiagnosis may occur. When confirming a diagnosis of ABCD syndrome, or checking for a misdiagnosis of it, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. There are complications and sequelae of ABCD syndrome from the Diseases Database such as hearing loss, albinism, and macrosomia

Any Treatments?

Well, yes and no. And this will be explained. There`s no treatment for ABCD treatment itself, however, its symptoms can be treated. One who suffers hearing loss can use hearing aids, while the intestine movement failure, if diagnosed early enough, can be treated through colostomy, a surgical procedure of creating an opening in the anterior abdominal wall to remove a damaged part.

How did ABCD Syndrome Ever Come about?


Petrus Johannes Waardenburg, a Dutch ophthalmologist, discovered the Waardenburg syndrome, closely related to ABCD syndrome when he examined two deaf twins. He defined the syndrome with six major symptoms, and much later, scientists discovered a wider range of its symptoms and categorized them.

Then in 1995, a case study was performed of a Kurdish family. In this case, scientists completed a molecular analysis with DNA strands of the patients diagnosed with ABCD syndrome. scanning the sequences to find a mutation in the EDNRB gene, one of the most important protein-coding genes. When the scan was completed, they concluded that ABCD syndrome was a form of Shah-Waardenburg syndrome. The genetic tests that they performed on the patients DNA helped in identifying the appropriate diagnosis.

However, in 2002, some other scientists examined patients born with white hair, some black locks, and depigmented skin and diagnosed them as having black lock albinism-deafness syndrome (BADS), suggesting that it was an autoimmune disorder, rather than a genetic defect. However, soon after, they had a patient who was one of fourteen children of Kurdish parents mentioned earlier. The pedigree they examined revealed autosomal-recessive inheritance which led to cell migration of the neurocytes in the gut and, therefore, they redefined the syndrome as ABCD syndrome, as that makes the C of the ABCD syndrome. This brought about a confirmation that ABCD syndrome was not a separate entity, but rather the same as Shah-Waardenburg syndrome.

Final Words…

Hmm…What a disease! ABCD syndrome. You`ve read it, now you know. That is an addition to your list of rare diseases. It makes more obvious the need for us to know our family history and run some medical tests. If this condition is treated early enough, that is, if its symptoms are treated, as it has been established that the disease itself as no cure, then ABCD sufferers live otherwise healthy lives. However, if it is not found soon enough, death often occurs in infancy. For those suffering hearing loss, it is generally regressive and the damage to hearing increases over time. This is a major reason it should not be taken with levity. Treatments should be administered. It can be treated with surgery or hearing aids. And for the intestinal issue, digestive problems from the colostomy and reattachment may exist, but most cases can be treated with laxatives.

So let us recapitulate, as this is may be a somewhat new knowledge to many a reader. It has been said that the ABCD syndrome got its name from its major symptoms which are albinism, black hair lock, cell migration, and deafness, and this condition shares symptoms with Waardenburg syndrome. You just want to share your newly acquired knowledge with others. It really is a great idea to do so.