It is every parent’s worst nightmare; having a baby with a possibly incurable birth defect that no one saw coming. Sometimes, no matter how healthy the mom is, something is slightly off in the genetic makeup of the baby, and the consequences can be horrific or even deadly.
Most moms will love and cherish their child no matter how severe the birth defect, but that doesn’t mean the family isn’t impacted. Some infants will need to spend months, years or even an entire lifetime under intensive medical care, and some will never survive that long. For many of the defects we will discuss, there is no rhyme or reason to why they happen, and the family can only hope for a comfortable and relatively painless life for their child.
Here, we will look at some of the worst things that can go wrong with the baby’s DNA, and what the physical impacts are when the baby is born. These children deserve to be seen and recognized for the brave and unique individuals they are, and hopefully the cure for each ailment is close on the horizon if there is no cure already. Read on to see 15 Of The Most Shocking Birth Defects Babies Can Have.
15 Epidermolysis Bullosa - Butterfly Babies
Imagine having a v-birth and having your baby lose half of their skin while exiting the birth canal?
There is a horrible and extremely rare skin conditions babies can have which is called Epidermolysis bullosa (EB) or “butterfly skin.” This is an inherited disease of the connective skin tissue that causes painful blistering and flaking of the skin. Only about 1 in 20 million children are born with this affliction. When this condition is diagnosed in utero, C-section is the only option to prevent serious damage during birth.
If you were to see one of these kids in real life, you may instantly assume they were victims of abuse or accidents, as they are often covered from head to toe in painful lesions. Sadly, there is little that can be done but to keep the skin well protected and card for. Many will also require pain meds. There is currently no known cure for EB, though bone marrow transplants and gene therapy may be the future for these children.
14 Foetus In Foetu - Pregnant Babies
Foetus in foetu is where a child is born with an unborn twin inside of him or her, giving the outward appearance of a pregnancy. In these cases, both twins are typically formed from the same egg during mom’s pregnancy, but the stronger twin absorbs the other and it grows like a parasite inside of the belly.
The only way to fix this crazy rare abnormality is to operate on the healthy twin and remove the other fetus from inside of them. Can you imagine growing up and having to answer the question on your medical forms… “Have you ever had surgery and if so, what?” And replying, “twin removal from abdomen.” I can’t even imagine.
13 Epidermodysplasia Verruciformis - Skin Like A Tree Trunk
Epidermodysplasia verruciformis (EV) is an extremely rare autosomal recessive inherited skin disorder that causes abnormally high susceptibility of severe skin lesions (and often, skin cancers) that appear scaly and bark-like. That is why this terrible disease is often called “treeman syndrome.”
People with this syndrome often have mutations on two genes, called EVER1 and EVER2. It is thought that the mutations make it difficult to ward off HPV infections that would be nearly harmless in a "normal" person.
One man, Abul Bajandar, had to have 16 surgeries to remove 11 pounds of these bark-like growths from his hands and feet. There is no cure as of today, though some treatments and surgeries can help.
12 Anencephaly - Babies Born Without Brains
It sounds like something out of a science fiction movie, but anencephaly is a very real birth defect with zero chances of survival. This is where the baby is born without parts of the brain and skull. This is definitely one of the most terrifying things a baby can be diagnosed with. Shortly after birth, some parents will choose to donate the infant’s organs and let the child pass away on a predetermined timeline.
So how does this defect even happen? Anencephaly happens when the upper part of the neural tube doesn't close all the way. This will usually lead to a baby being born without the front part of the brain (forebrain) and the thinking and coordinating part of the brain (cerebrum). The remaining parts of the brain are often not covered by bone or skin.
There is no known cause of this tragic defect. It can be caused by genetic mutation, environmental factors, or both. Getting enough folic acid during pregnancy can help prevent this and other neural tube defects, as statistics from the past few decades have proven.
11 Unexplained Mutation - Baby With Two Faces
In 2008, in India, a baby girl named Lali was born with two faces, and believed by villagers to be the reincarnation of the revered Hindu god, Lord Ganesha. Ganesha was depicted as half human, half elephant. Born to first time parents living in extreme poverty, fear and shock surrounded the family, but when people began to show up in waves and treat the baby like a god, they learned to accept their family’s strange fate.
There have been few to no other babies appearing like this. It is likely that a mutation in the genes caused this strange feature, or that perhaps the baby was originally a pair of twins and something unexplained happened in the womb. The family has accepted that medical problems could arise or the child could live a short life, and has decreed it to be God’s will.
10 Arhinia - Baby Born Without A Nose
In 2015, the world gained a special little miracle baby named Eli Thompson. A social media phenomenon, Eli was known for his bright smiles and joyful fist bumps. What made Eli so special, aside from his dazzling personality, was that he was born without a nose- a condition affecting only 30 people in recorded human history.
Because he was born without a nasal passage (a condition called arhinia), he received a tracheotomy surgery at only 5 days old to help him breathe. His condition was so rare that it was unclear what quality of life he would have and how long he would survive. One thing is very clear, however. In his short two years here, he made a big impact on everyone who followed his journey.
9 Conjoined Twins - Born Inseparable
In the U.S. per year, fewer than 1,000 babies will be born conjoined. This happens when the embryo only partially separates to form two people. What should have been twins results in one often medically fragile person. They are usually connected at the chest, but there are all different kinds of conjoined twins.
If they survive (many don’t live to be born), doctors have to decide whether it is safe to surgically separate them. This will depend on where they are joined on the body and how many (and which) organs they share. The operating team must also be highly skilled, as one wrong move would spell disaster. In many cases, separating would prove fatal and they must spend their entire lives connected. As you can see above, this type of conjoined twins would most likely not be able to be operated on.
8 Microcephaly - The Head Is Shrunken
Microcephaly is a heartbreaking birth defect that seems to be on the rise lately. It is linked to drug or alcohol abuse during pregnancy, but it can also happen if a pregnant woman gets infected with certain viruses while pregnant, such as Zika, German measles (rubella), or varicella.
There is no cure for this defect, which causes a shrunken head and often many delays and impairments, though early intervention with therapy can help. The odds of having a baby with this unfortunate condition are low, as between two to ten kids per every 10,000 will have it.
Sometimes babies are diagnosed with an ultrasound while in the womb, but sometimes this condition isn’t discovered until the mom gives birth. That is heartbreaking, right?
7 Severe Combined Immunodeficiency - Bubble Boy Disease
Severe Combined Immunodeficiency (SCID) is extremely rare, impacting only 1 in every 50,000-100,000 children. You may remember the famous and tragic story of the “Bubble Boy”, David Vetter, who had to live in complete isolation (in a sterile plastic bubble) until he died at the age of 12. There were several movies based on his story.
Children with SCID can now be treated or “cured” with a bone marrow transplant, enzyme therapy or gene therapy if they are diagnosed in time. The process is very complicated and does not always go according to plan. These children lack functional T and B cells due to genetic inheritance or a mutation, and this condition is usually only diagnosed with the crucial Newborn Screening test or after they have become gravely or repeatedly ill with infections such as adenovirus or bacterial pneumonia.
As a mom of one of these rare children, we spent 7+ months living in-patient in the hospital because our child was not diagnosed until he was placed on a ventilator with a nearly fatal pneumonia. We are one of the lucky families to have a child who recovered and was transplanted with my bone marrow, but it was a harrowing and life-changing journey (to say the least). Pictured above is baby Riley, a SCID warrior who received gene therapy and is on her way to a full recovery!
6 Ambras Syndrome - Hairy From Head To Toe
Imagine living in a country where ultrasounds are not routinely performed, and you think you are having a normal pregnancy, only to get the shock of a lifetime when the baby comes out? That is what can happen if your baby has Ambras Syndrome, an extremely rare condition where the baby is covered with thick hair from head to toe.
Affecting only about 40 people in the entire population of the world, this condition is often not caught before birth and has no know treatment. It is hard enough to be a child and make friends in school, but these children often face debilitating teasing and harassment from their peers for a lifetime.
5 Mermaid Babies
Many people have heard the story of the “Mermaid girl”, with her legs fused together resembling that mythical siren with a fish-like bottom. Fused limbs do not only happen to legs, however. About 1 in 70,000 babies a year has some kind of fusion, whether it is legs, toes, fingers or other parts.
The problem with this type of fusion is that there is little that can be done to “fix” the condition, because surgery is often too dangerous or impossible to perform. It truly depends on what body part is affected and where the child is born (whether a qualified medical team is located nearby).
4 Fibrodysplasia Ossificans Progressiva - Bones That Don’t Belong
Imagine every time you bumped into something or got hurt, you grew extra bones inside of your body? Well, that is exactly what happens with the condition called Fibrodysplasia ossificans progressiva. These children literally sprout new bone in areas that are hurt.
Where there would be a scar or a booboo in a normal baby, these kids have large bone sprouts, so much so that their lives becomes debilitating. Surgery can’t be performed because where bone was removed… new bone would just crop up. These poor kids must suffer for their entire lives with painful spurts of excess bone.
3 Genetic Mutation - Puppydog Tails
Do you remember the movie, “Shallow Hal”? It was and still is one of my favorite comedies, simply because it’s so outlandish and ridiculous. What is not funny, however, is the “puppydog tail” Hal’s best friend Mauricio reveals because it is actually a real life medical issue called a Vestigial tail.
That’s right… some rare babies are born with actual tails complete with skin, bone, muscles, nerves, and blood vessels. It’s believed to be caused by a genetic mutation that would normally eliminate non-essential body parts in humans. For some of these children, surgery is possible to remove the tail; it depends on their personal anatomy.
2 Albinism - The Hunting Of White Babies
Only one in 20,000 children will be born with albinism, or total lack of color in the skin and hair. Aside from being extremely rare and carrying various health issues, such as poor eyesight and extreme sensitivity to light and UV rays, there are many African countries where albino children are “hunted” for their body parts.
In Malawi, for example, albinos are hunted, kidnapped and often murdered so that their limbs may be ground up to create “magic potions” by witch doctors who claim they bring wealth and good luck. Nearly two dozen albino children and adults have been victims of this tragic occurrence in the past 5 years alone in Malawi. And yes, this is dead serious. You would think in 2017, someone would dispel the myth that Albino body parts are magical, but there are many parts of the world that still practice these horrific "dark arts."
1 Omphalocele - Born With Organs Outside Of The Body
Omphalocele is when a baby is born with their organs outside of the body. The intestines, liver, or other organs stick outside of the body through the belly button. They’re covered with a thin sac that is practically transparent, and it is quite jarring to see firsthand.
In the U.S. every year, only 1 in 5,386 babies are born with this birth defect. There can be many other problems that happen as a result, such as infection or an organ becoming pinched, causing decreased blood flow. Other serious birth defects, like heart or neural tube defects, are likely to be present with this condition.
To fix this awful defect, surgery must be done to put the organs slowly back into the body through a surgical opening. Over time, the organs will each be put back in the belly, and then the opening must be closed. However, many babies do not survive to that point.
Sources: CBSnews, CDC.gov, foxnews.com, listverse.com, livescience.com, mayoclinic.org, telegraph.com