Understanding Craniofacial Disorders and Other Birth Defects

There are over 4,000 different types of known birth defects, ranging from minor issues that require no treatment to serious defects that require medical or surgical treatment to try and remedy the problem.

Craniofacial disorders are among the most stressful for parents as they often need immediate attention and surgical intervention. While facial disfigurement can be obvious, there are also subtle forms of cranial misalignment that can lead to serious complications, including impaired brain development. Even though each case is different, there are certain types of craniofacial disorders that are more commonly known.

Birth Defects and Their Causes

The March of Dimes Foundation, a non-profit organisation committed to improving the health of mothers and babies, has found that 1 out of every 33 babies in the United States is born with some sort of birth defect.

If a baby is born with a part of their body missing or malformed, this is referred to as a “structural” birth defect. If a problem with the baby’s body chemistry is identified, this is known as a “metabolic” birth defect.

Birth defects are obviously distressing, for parents and children alike. And while some are considered acts of nature and entirely unavoidable, others are the result of causes that could have been prevented.

One example was identified in a study published by BioMed Research International. Investigating the effects of the drug Zofran, researchers found that babies exposed to this drug in the first three months of pregnancy were 20% more likely to be born with a major birth defect.

With the proper awareness of a drug’s potential side effects, along with sensible measures like taking folic acid and getting enough iodine into your body, some birth defects can be avoided.

It’s  important to mention that the vast majority of babies born with birth defects are born to healthy parents, ones who have no obvious health issues or risk factors that could have influenced the outcome.

Doctors are often unable to determine what caused a baby’s birth defect. But there are many cases in which the cause is known. These can be the result of exposure to chemicals or viruses while in the womb, or perhaps a genetic problem.

One of the more alarming groups of disorders that babies can suffer from is facial disfigurement.

The Children’s Craniofacial Association, at ccakids.org, is an organization devoted to empowering families that have been affected by facial differences. The CCA is a great resource that provides useful information and support to families dealing with this difficult subject.

Craniofacial Disorders

A baby born with an abnormality of the head or face will be diagnosed as having some sort of craniofacial disorder.

Abnormal growth patterns of the face or skull can lead to craniofacial differences, affecting the soft tissue and bones in the baby’s face. A craniofacial condition is often brought about by a birth defect, disease or trauma, and may result in disfigurement.

There are a number of specific syndromes linked with craniofacial disorders and here is a list of the most prominent or frequently occurring ones. The general descriptions relating to each particular syndrome are supplied for information purposes only and it is recommended that if you have any concerns about any of them, you should consult a geneticist who can then make a professional diagnosis if needed.

Apert Syndrome

This is a condition characterized by an abnormal growth of the skull and face as a result of early fusion of certain sutures of the skull.

Children who suffer from Apert syndrome are seen to have bulging eyes that are frequently wide-set in appearance and tilted down on each side. This usually creates problems with teeth alignment as a result of underdevelopment of the upper jaw.

Some children with Apert syndrome may have a cleft palate. Other specified anomalies include webbed fingers and toes.

Support and information can be found through resources like Apert International. It’s worth noting that Apert syndrome is rare, affecting only 1 in 160,000 children.

Carpenter Syndrome

There are a group of rare genetic disorders that are known as acrocephalopolysyndactyly or ACPS disorders, and Carpenter syndrome is part of this group.

Every variant of ACPS is characterized in the same way, by webbing or fusion of some fingers and toes. This fusion is referred to as syndactyly, and it is also possible for someone with Carpenter syndrome to have more than the normal number of digits, which is known as polydactyly.

Babies with this condition may also suffer from premature closure of the fibrous joints between certain bones of the skull, which has the effect of making the top of their head appear pointed or cone shaped, which is known as acrocephaly.

Families who are affected by Carpenter syndrome or have a disabled child can network through sites like makingcontact.org and talk to others who are in the same position.

Cleft Lip or Palate

A cleft palate occurs when the two sides of a child’s palate do not fuse properly during fetal development.

A cleft lip or palate is the description given to the abnormal separation of the parts or segments of the lip or roof of the mouth, which would normally fuse together during the first few weeks of pregnancy.

A cleft lip involves the separation of both sides of the lip. More often than not, it also includes a problem with the bones of the maxilla and possibly the upper gum as well. A cleft palate is the term used to describe an abnormal opening in the roof of the mouth, which comes in varying degrees of severity.

A cleft palate is the result of an abnormality in the early stages of pregnancy that leads to both sides of the palate failing to fuse as normally as the fetus develops.

There are a number of known causes and risks associated with a cleft lip or palate, and some studies have suggested that the use of anti-nausea drugs like  Zofran can potentially cause the condition during pregnancy. The current figures in the United States show that oral clefting occurs in between 1 in 700 to 1,000 births, which makes it one of the most common major birth defects.

The Cleft Lip and Palate Association (CLAPA) offers more information and support on this issue.

Craniosynostosis

Some children are born with Craniosynostosis and others develop the condition at a later stage. It is the medical term used to describe the fusion of bones to the skull.

Rather than one single bone, the human skull is made up of a number of different bones that all fuse together during development. Areas where the bones meet are called sutures, and as a baby’s brain grows, it pushes the bones and forces them to expand accordingly.

Craniosynostosis occurs when one of these sutures fuses earlier than it would normally, creating an imbalance that leads to an abnormally shaped skull.

Organizations like Craniocarebears, can help provide parents with support and information if they are affected by this syndrome.

Crouzon Syndrome

Crouzon syndrome is another condition in which the skull’s sutures fuse prematurely to create abnormal growth of the skull and face.

Crouzon affects 16 newborn babies for every million births, and children with the condition have bulging eyes, caused by abnormal growth of the mid-face. They may also display a receding upper jaw and protruding lower jaw, which often leads to problems with their teeth.

FACES, which is the National Craniofacial Association offers support and access to resources for families affected by Crouzon syndrome.

Facial Cleft

This is a rare condition which occurs when the baby suffers from areas of absent bone and possibly overlying skin, which may happen to either one or both sides of the face.

A facial cleft can lead to feeding problems, as well as speech difficulties, dental issues and hearing impairment.    

A wealth of information and resources on cleft and craniofacial issues can be found at ameriface.

Facial Palsy

Either a congenital deformity at birth or one acquired after delivery, facial palsy causes complete or partial paralysis of the face.

Facial motion begins in the brain, signals travel through the facial nerves and transmit impulses to the muscles in the face. The muscles subsequently contract in response to this stimulus and normal facial expressions such as smiling and blinking are achieved using this process.

Facial palsy affects the brain’s ability to exert normal control over facial muscles, and can result in difficulty with facial expressions.

Fibrous Dysplasia

Fibrous dysplasia, a condition specific to bones,  is not hereditary but can progressively worsen until the bones stop growing entirely.

As the condition progresses, normal bone is replaced by structurally weak fibrous tissue known as osseous.

You can get more information and support in relation to this chronic condition through sites like the Fibrous Dysplasia Foundation.

Frontonasal Dysplasia

This condition, also known as Median Cleft Face Syndrome, is characterized by a flat, wide nose and wide-set eyes.

Someone who has Frontonasal Dysplasia will also display a groove of varying degree, running down the middle of the face and across the nose. There are some cases of this condition where the tip of the nose is missing and a gap with additional folds of skin covering it may also appear on the front of the head.

Hemangioma

This is a non-malignant tumor which is caused by rapidly growing endothelial or vascular cells.

Skin hemangioma’s tend to appear as small scratches on babies and subsequently grow larger throughout their childhood until they reach somewhere around their 10th birthday, when the skin condition usually disappears on its own.

Hemifacial Microsomia/Goldenhar syndrome

This condition affects the lower half of one side of the face and results in abnormal growth on the affected side.

One of the most distinguishable signs of this condition is a partially formed ear or, in some cases, a complete absence of an ear. With regard to Goldenhar syndrome, children may suffer from neck problems, as a result of a fusion or bony bridges appearing between the bones of the neck.

The California Ear Institute is one resource where you can get more information about Goldenhar’s syndrome.

Microtia/Artresia

Anyone with Microtia will be identified by the fact that they have an incompletely formed ear.

This condition takes various forms: babies can be born with no ear, a partial ear, or a number of variations such as having a lump of tissue where an ear would normally be located.

Artresia refers to the closing or complete absence of an ear canal in the middle ear. If both ears are affected, this may also involve the condition known as Treacher Collins syndrome.

Miller Syndrome

This is a very rare condition that is identified by downward slanting eyelids, a cleft palate and a number of other anomalies that include small cup-shaped ears and missing or webbed fingers and toes.

Other known issues relating to Miller syndrome include potential lung disease and dislocated hips, as well as difficulty with vein access.

The Foundation for Nager and Miller Syndromes has more information and resources for anyone affected by this condition.

Moebuis Syndrome

This is a rare congenital developmental disorder characterized by a total lack or underdevelopment of the nerves required to control facial and eye movements.

The majority of those diagnosed with Moebuis syndrome suffer from severe weakness or complete paralysis of the facial muscles. This affects their ability to carry out normal facial movements and expressions such as smiling and closing their eyelids.

Another effect of this condition is that drooling and difficulty with speech can occur and infants sometimes experience difficulties with sucking and swallowing.

Nager Syndrome

There are a number of specific facial characteristics that are associated with Nager syndrome, including downward slanting eyelids, a lack of or incomplete cheekbones and a severely underdeveloped lower jaw along with clefting of the hard or soft palates.

Nager syndrome can also lead to upper limb defects and incorrectly developed or missing thumbs and there is also the chance that the radial limb may be absent.

Pierre Robin syndrome

The specific symptom for Pierre Robin syndrome is a lower jaw which is abnormally small in appearance.

There are also known problems associated with this condition such as the tongue falling back down the throat and there is also the possibility of a cleft lip or palate.

Pfeiffer Syndrome

A characteristic of Pfeiffer syndrome is that certain skull sutures become fused prematurely. The person will also display a high forehead and may appear to have a head that appears more pointed than normal.

The middle of the face will also appear flatter than usual and the eyes will be widely spaced, along with a small and flattened nose and a misaligned upper and lower jaw. They will most likely have thumbs and toes that are broader than usual in appearance and the teeth will often be crowed.

The International Craniofacial Institute provides more information regarding the three different types of Pfeiffer syndrome and their related symptoms.

Saethre-Chotzen

This condition is depicted by more than one suture fusing prematurely, which causes irregular head growth.

It also causes the eyes to appear droopy and bulging and may also become crossed as well. Saethre-Chotzen syndrome can also be identified by an underdeveloped upper jaw and the fingers can be short and possibly fused too.

Treacher Collins

This is a condition where the cheekbones and jawbones do not develop properly. Children with Treacher Collins syndrome will normally have very small or incomplete cheekbones and they may also suffer from stretching of the lower eyelids.

Another characteristic of this condition is that the ears are highly likely to be abnormal and part of the outer ear is quite likely to be missing. Hearing loss is also known to be associated with this particular syndrome.