15 Rare Genetic Conditions That Can Affect The Baby

The creation and development of a human fetus is an incredibly complex biological process. One misstep and everything can change.

The creation and development of a human fetus is an incredibly complex biological process. From egg meeting sperm and developing into the zygote (great scrabble word by the way!) to the formation of the embryo and its development into a fetus, there are so many processes at work and so much potential for something to go awry, it is a wonder any of us ever make it as far as the birth, let alone manage to get as far as adulthood.

Many of the stages of fetal development are turned off and turned on by specific chemicals which are in turn controlled by particular genes. If even the slightest blip occurs when the cells are dividing and reproducing early on, a genetic anomaly can occur which has far-reaching implications for the baby.

Think of it as having to sit and copy out an entire library of books, by hand and if you so much as miss a dot over an i or add an extra letter somewhere, the entire library is changed.

Each of these genetic conditions is either the result from such a tiny misstep in the copying process of the genes or an inherited condition where the faulty gene has been passed down from one or both parents to their child.

Disclaimer: Images have been changed to protect individuals' identities.

15Cornelia De Lange syndrome - Distinctive Features

Cornelia de Lange syndrome is a rare genetic disorder that is not always diagnosed before or close to birth. Named after the Dutch pediatrician Cornelia Catharina de Lange who first described the condition, it causes a broad range of physical and mental challenges and affects both boys and girls in equal measure.

The condition is thought to occur due to a spontaneous gene mutation - so it is not passed down through families, and its effects can range from mild to severe.

Typical of de Lange syndrome is restricted growth, short stature, abnormalities of the bones in the arms, hands, and fingers. Most individuals display autistic-like behaviors, and the most distinctive element of the syndrome is the unique facial features most sufferers share. These are arched eyebrows that meet in the middle, long eyelashes, small widely set teeth, low set ears and a small, upturned nose.

14Crouzon Syndrome - Fused To Soon

Octave Crouzon was a French doctor who first described Crouzon syndrome and noticed that the patients that were affected were mother and daughter which strongly suggested a genetic cause. People born with Crouzon Syndrome are usually diagnosed at birth, although it may also be picked up on a regular ultrasound examination.

When a fetus with Crouzon syndrome is in the early stages of development, the skull and facial bones fuse too early and become unable to expand. This inhibits healthy bone growth and can have multiple impacts on the fetus.

People with Crouzon syndrome have characteristically low-set ears. This occurs because the ears on a fetus start out much lower than those of a newborn. They travel up the head as the bones expand, but with early fused bones, this doesn’t have a chance to happen.

Surgery to separate the fused bones can take place, and today children with Crouzon Syndrome may have a much better quality of life that patients of the past.

13Neurofibromatosis - Meet Amare

Amare Stover was born with neurofibromatosis (NF1), a genetic disorder that means tumors can develop anywhere in his body. The tumors became so severe that when he was four years of age he had to be fitted with a permanent tracheostomy tube to prevent the tumors in his throat choking him to death. The sight in his right eye has already been lost due to the pressure of the tumors and doctors are fighting to save the sight in his left eye.

This condition causes tumors to grow on the nervous system and can vary in severity from mild and localized to as severe as Amare’s case. The tumors are generally non-cancerous, but that does not mean they cannot be dangerous.

Some tumors can compress the brain or other bodily organs in such a way that they are inoperable and the sufferer will lose their life from them crushing into their brain or due to organ failure.

12Mabry Syndrome - It Fades

Both parents must have the gene for Mabry Syndrome, but neither of the parents will show any signs or symptoms of the condition.

All children who are affected by the syndrome will have some degree of mental disability and a raised level of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia). They will typically have no speech and a delay in the development of their motor skills such as sitting, crawling and walking. Most children have a low muscle tone which makes them appear floppy, and they may develop seizures.

The distinctive features of Mabry Syndrome include wide-set eyes, a nose with a broad bridge and a small tip, a thin upper lip, a downturned mouth and long openings of the eyelids. These features are most pronounced during childhood and become less apparent over time.

11Ectodermal Dysplasia - A Genetic Group

Ectodermal Dysplasia is not one but an entire group of genetic conditions affecting the development or function of the teeth, nails, hair, and sweat glands. There are more than 150 forms of ectodermal dysplasia and, depending on the particular form it can also affect parts of the inner ear, the lens or the retina of the eye, the development of the fingers and toes, the nerves and other parts of the body.

Symptoms can include:

  • Absence or abnormality of hair growth or teeth
  • An Absence or malformation of some fingers or toes
  • Cleft lip and/or palate
  • Irregular skin pigmentation
  • The inability to perspire, which causes overheating
  • Impairment or loss of hearing or vision
  • Frequent infections due to immune system deficiencies or, in some cases, the failure of cracked or eroded skin to keep out disease-causing bacteria

Individuals impacted by the ectodermal dysplasia syndromes face a lifetime of medical treatment ranging from full dentures for young children to wigs, photoprotective devices, and corrective surgeries.

10Treacher Collins Syndrome - A Variety Of Impacts

The signs and symptoms of Treacher Collins Syndrome vary a great deal. Some of the children affected will have barely noticeable symptoms while others will be severely affected.

Most children have underdeveloped bones of the face, especially the cheekbones and a small lower jaw and chin. Some sufferers also have a cleft palate, and in severe cases, the airway might be restricted.

Typical facial features include eyes that slant downwards, an eyelid coloboma (which is a notch in the eyelid) and thin eyelashes. Children may also have issues with their vision and about half of those affected will have some hearing loss because of defects in the three small bones in their ears that transmit sound.

Treacher Collins syndrome only affects the physical structure of the face and does not have any impact on the brain or the intelligence of the people affected.

9Proteus Syndrome - Thrombosis Threat

Newborns with Proteus syndrome do not show any symptoms, and the syndrome only becomes apparent when the child gets to 6 - 18 months, with symptoms becoming progressively worse with age.

Intellectual disabilities, seizures and vision loss can affect patients, and those who have these symptoms are also likely to have distinctive facial features such as a long face, eyes that point downward at the outside corners, wide nostrils, a low nasal bridge and an open mouth expression.

The central symptom of Proteus syndrome is the overgrowth of body tissue, out of proportion to the rest of the body. It can affect bones, skin and any other body tissue. A complication of this is deep vein thrombosis which can lead to pulmonary thrombosis, a common cause for loss of life for those with Proteus syndrome.

8Zellweger Spectrum Disorder - An Early End

Like many of the other genetic conditions mentioned here, Zellweger spectrum disorder can vary from mild to severe. Those at the serious end of the spectrum will first develop symptoms in the newborn period. They will have weak muscle tone, feeding problems, seizures and hearing and vision loss. Children will also develop potentially life-threatening issues with organs including the heart, the liver, and the kidneys. These children rarely survive beyond the first year of life.

The distinctive facial characteristics of Zellweger spectrum disorder include a flattened face, a high forehead, and a wide nasal bridge.

The children that do not develop symptoms until late infancy or early childhood are generally at the more mild end of the spectrum. The condition progresses more slowly in these children but as they age their intellectual disabilities will become apparent. These children survive until later childhood, and on rare occasions, those with the mildest form of the condition may survive into adulthood.

7Kabuki Syndrome - The Theatrical Name

Children born with Kabuki syndrome usually have a mild to severe developmental delay and may also have seizures, an unusually small head, weak muscles, involuntary eye movements and a cleft palate.

This particular condition was named after the distinctive stage makeup used in traditional Japanese Kabuki theatre. The facial characteristics include arched eyebrows, long openings of the eyelids; lower eyelids turned outwards at the outside edges and long eyelashes. The nose is usually flat and broadened at the tip, and the earlobes are large and protruding.

Skeletal issues include an abnormal side-to-side curvature of the spine, short fifth fingers or problems with the hips and knee joints. Children will be of short stature, have ear infections and hearing loss as well as heart abnormalities and early puberty.

A particularly unusual feature of Kabuki syndrome is that some children will have what is called fetal finger pads. They typically only occur in the fetus and disappear before birth, but these children retain these large fleshy fingertips.

6Tessier Cleft - 3D Printing Gives Girl A New Face

Little Violet Pietrok was born two years ago with a rare genetic condition called a Tessier Cleft. Tessier clefts can vary in size, position, and severity but they all have one thing in common. While the fetus was developing one of the genes that give the instructions for where cells are supposed to go and what they are meant to make, ‘misfires.’ As a result, the tissues in the face do not come together and fuse.

In Violet's case, her surgical team were willing to try a series of operations to correct her condition but were concerned that they would encounter difficult boney structures during surgery or even damage nerves or brain tissue.

To solve this problem, they performed multiple MRIs then used the information to 3D print an exact replica of Violet's skull to practice on before going into the operating room.

5Primordial Dwarfism - Only 200 People Worldwide

There are a tiny number of tiny patients with primordial dwarfism. Unlike other forms of dwarfism, children and adults who live with primordial dwarfism are exceptionally short, but their bones and organs are all in proportion to the rest of their body.

There are five subdivisions of primordial dwarfism each with its own set of additional symptoms. Some forms result in the child having microcephaly, hip displacement and a variety of other skeletal issues. Other children can have very thin, if any, body hair, seizures, hyperactivity, apnea and an assortment of sleep disorders.

As the condition is genetic and does not have anything to do with a lack of growth hormone, there is no treatment for the condition itself, only some treatments for the symptoms.

Many children with primordial dwarfism will reach adulthood, but it is unusual for someone with this particular genetic condition to live into their thirties.

4Sotos Syndrome - Rapid Growth Is its Own Problem

There is a not so-little-boy James; he is three years of age, and he has been diagnosed as having Sotos Syndrome, a genetic condition that causes rapid growth in the early years of life. These children grow very quickly indeed and are significantly taller than their peers, but fortunately this growth levels out at puberty, and they can be expected to have an average adult height.

Although the growth stops in puberty, those with Sotos Syndrome often have intellectual disabilities and behavioral problems. It is also very common to have low muscle tone which can impact physical development milestones such as crawling and walking.

Children with Sotos have a characteristically long face, a high forehead, a small pointed chin and flushed cheeks. These features are most noticeable in infancy and early childhood.

3Jones Syndrome - Rarely Seen

Jones syndrome is an extraordinarily rare condition that causes enlargement and overgrowth of the gums along with a progressive hearing loss in both ears that begins in the second decade of life. The condition typically becomes apparent when the permanent teeth start to break through the gum, although it can begin earlier.

The overgrowth of the gums can cause the teeth to be pushed in multiple directions and prevent the remaining baby teeth falling out. This can also lead to speech problems and difficulty eating due to the tooth displacement and the pain caused by the inflammation of the gums.

Two other conditions exist which lead researchers to believe that the three together are all one condition with different degrees of severity. In some cases, Jones syndrome is accompanied by excessive hair growth, especially on the upper body, and in other cases the nails or last bones of the fingers are missing or stunted.

2Jacobsen Syndrome - Co-Occurring Syndromes

Jacobsen syndrome occurs in approximately 1 in 100,000 newborns, and it varies in how it affects each one. Physically, children with Jacobsen syndrome often have a larger than average head and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. Typical facial features are a small lower jaw with a thin upper lip and a mouth which is downturned in the corners. Individuals may also have small, low-set ears, widely set eyes with droopy eyelids, skin folds covering the inner corner of the eyes and a broad bridge of the nose.

Children with this condition often have ADHD, developmental delays, exhibit compulsive behaviors and have an increased likelihood of being diagnosed with an autism spectrum disorder.

1Goldenhar Syndrome - Removed By Instagram

Charlie Beswick, like the majority of parents these days, likes to share pictures of her children on social media. Beswick has twin sons one of whom, Harry has Goldenhar syndrome a genetic disorder that causes the incomplete development of the ears, eyes, nose, lips, and jaw.

Unfortunately for Beswick, someone who follows her on Instagram reported a photograph of her son, and it was removed because it did not meet Instagram's "guidelines.”

Like many similar conditions, it has degrees of severity. Harry's mom says: "But he is at the more severe end of the craniofacial cosmetic end so when he was born he had got no eye socket at all, no eye, no ear, no nostril and a short, underdeveloped jaw as well. This isn't the first time Instagram have done this, it's the second time they've taken an image off. Both times were when he didn't have his prosthetic eye in - it's specifically those pictures Instagram or someone is finding offensive. He has had a lot of surgery to create those sockets so I'm proud to show it off."

The photo has since been restored to her account.

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