Cleft and Craniofacial Conditions and Treatments, Baton Rouge, LA

Cleft and Craniofacial Conditions We Treat

Cleft Lip and Palate

What is cleft lip and palate?
Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth. 

What causes cleft lip and palate?
Cleft lip and palate may occur along with other syndromes or birth defects.  When a cleft lip or palate occurs without any other findings or syndromes, we call this an "isolated" cleft lip/palate.  When an isolated cleft lip or palate occurs, a specific cause is often not found.    

How do we treat cleft lip and palate?
A physical examination of the mouth, nose, and palate confirms a cleft lip or cleft palate. Medical tests may be done to rule out other possible health conditions. 

Surgery to close the cleft lip is often done when the child is around 3 months of age.  Cleft palate surgery can occur as early as 8 - 9 months old but may be delayed until 18 months of age. Surgery may be needed later in life if the problem has a greater effect on the upper jaw, nose area, as well as speech.

Craniosynostosis

What is Craniosynostosis?
Craniosynostosis is premature closure of the baby’s skull sutures. The sutures are located between bone plates in the skull and allow for expansion of the skull as the head grows. Closure of these sutures prematurely results in altered growth that affects the shape of the baby’s head. It also leads to higher pressure on the brain that can affect the baby’s development, including learning disabilities, problems with eyesight, and altered appearance to the face and head.

What causes craniosynostosis?
What causes craniosynostosis is not completely understood. It can be limited to just the closure of a single suture or be part of a craniofacial syndrome (such as Crouzon Syndrome or Apert Syndrome) which involves the shape of face as well. Like cleft lip and palate it is not directly passed from parent to child.

It affects anywhere from 1 in 2,000 to 1 in 3,000 babies each year. We make the diagnosis using a CT Scan.

How do we treat craniosynostosis?
Craniosynostosis is treated with removal of the suture wither with open surgery or an endoscopic approach. The surgery needed depends on which suture is involved and the extent of the affect on the shape of the skull.

Your baby will typically spend 2-3 nights in the pediatric intensive care unit and then move to a regular pediatric hospital room for 2-3 nights.

Positional Plagiocephaly

What is positional plagiocephaly?
Positional plagiocephaly is a flat area on the back or side of a baby’s head. It can cause the ears to be in different positions relative to each other or the forehead on one side to protrude compared to the other. This condition does not affect underlying brain growth or development. It can result in a cosmetic deformity in moderate to severe cases.

What causes positional plagiocephaly?
An external force on the head either before or after birth that causes the head shape to grow abnormally. This can be related to repeat positioning while sleeping. It can also be related to the baby having difficulty turning their head because their neck muscles are too tight, this is called torticollis.

Premature babies are more likely to develop positional plagiocephaly because their skull bones are softer and they move their heads less often when laying flat on their backs.

We diagnose positional plagiocephaly by examining your baby’s head in the clinic.

How do we treat positional plagiocephaly?
Depending on the age of the baby we recommend “tummy time” techniques to keep the baby off the back of their head and allow their head to grow into a more even shape.

In children with neck muscle stiffness, or torticollis, we recommend physical therapy to help with range of motion.

Babies with moderate to severe cases are treated with helmet that helps mold their head into the correct shape.

Apert Syndrome

What is Apert Syndrome?
Apert Syndrome is a craniofacial syndrome that affects growth of the upper face, skull as well as fusion of fingers and toes. The skull is affected by craniosynostosis and the upper facial growth is inhibited leading to underdevelopment of the forehead, cheekbones and upper jaw. The fingers and toes are fused together (syndactyly) and this includes both the bones and skin.

What causes Apert Syndrome?
Apert Syndrome is a rare genetic disorder that affects around 1 in 65,000 to 1 in 90,000 newborns. It is caused by a genetic mutation in the Fibroblast growth factor receptor (FGFR) genes. It can occur on its own or be inherited from a parent. Parents have a 50% chance of passing on Apert Syndrome.

How do we treat Apert Syndrome?
We treat Apert Syndrome by first addressing all the problems the baby might have. The team geneticist examines the baby and performs genetic testing.

Any organ or joint problems are noted and addressed as the needs of the baby. The fingers and toe fusions are initially treated within the first year of life and require multiple procedures that may extend to 24 months of age.

The malformation of the skull and facial bones are addressed by treating the craniosynostosis while the baby is between 6-12 months of age. The facial growth and the misalignment of the jaws is treated when the child is older based on their development.

Crouzon Syndrome

What is Crouzon Syndrome?
Crouzon syndrome is a genetic condition that affects growth of the upper face and skull. It involves craniosynostosis, or premature fusion of the sutures of the baby’s skull bones. It can involve problems with the spinal column in the neck and rarely problems with other organs or joints.

What causes Crouzon Syndrome?
Crouzon Syndrome is a rare genetic disorder that affects around 1 in 60,000 newborns. It is caused by a genetic mutation in the Fibroblast growth factor receptor (FGFR) genes. It can occur on its own or be inherited from a parent. Parents have a 50% chance of passing on Crouzon Syndrome.

How do we treat Crouzon Syndrome?
We treat Crouzon Syndrome by first addressing all the problems the baby might have. The team geneticist examines the baby and performs genetic testing.

Any organ or joint problems are noted and addressed as the needs of the baby.

The malformation of the skull and facial bones are addressed by treating the craniosynostosis while the baby is between 6-12 months of age. The facial growth and the misalignment of the jaws is treated when the child is older based on their development.

Facial Paralysis/Moebius Syndrome

What is Facial Paralysis (FP)?
The facial nerve is the 7th cranial nerve and is responsible for facial expression, such as smiling and eye closure.  The facial nerve forms at the brainstem then courses through the temporal bone of the skull, exits the bone below the ear then branches into many smaller branches in front of the ear into the muscles of facial expression. When there is a problem anywhere along the path of the facial nerve, facial paralysis can result.   

In younger patients, the cause of facial paralysis can occur for many reasons.  The two main types of facial nerve paralysis include congenital facial paralysis which is by definition present at birth.  This can occur due in our patients with craniofacial abnormalities such as hemifacial microsomia population as well as in Mobius syndrome.  Mobius syndrome is a constellation of facial findings that includes absence of facial nerve development and thus, facial paralysis, as well as other cranial nerve abnormalities.  The second type of facial paralysis is the acquired form where the child suffers facial nerve injury at the time of birth due to a traumatic birth process or time in the birth canal.  

What causes Moebius syndrome?
The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers have not identified any specific genes related to this condition.

How do we treat FP and Moebius syndrome within our team?
In patients with incomplete or acquired FP, observation is often recommended as complete recovery is common. In our Moebius patients, the lack of facial nerve development indicates improper facial musculature development as well.  In this patient population we frequently use muscle from elsewhere in the body, attach it to another nerve in the head and neck to recreate a natural smile.  

Hemifacial Microsomia / Goldenhar Syndrome

What is hemifacial microsomia (HFM)?
Hemifacial microsomia is a condition where children have an asymmetry between the two sides of the face primarily from an underdeveloped ear, lower jaw, upper jaw and cheekbone.  It is also known as first and second brachial arch syndrome, otomandibular dysostosis, oculo-auriculo-vertebral sequence (OAVS), facio-auricuolo vertebral syndrome, Goldenhar syndrome, and lateral facial dysplasia. These children may demonstrate a wide variety of findings that include absence of the ear (anotia) or a smaller ear on one side (microtia), facial growths known as tags and accessory tragi, peri auricular pits, underdeveloped TMJ, as well as a smaller appearing cheek related to reduced bone growth as well as soft tissue (fat and muscle) development.  

Causes of HFM? 
The cause of HFM is typically not thought of as a genetic abnormality.  The cause is, in fact, quite unclear.  Theories include that some insult occurs during early embryonic development that is likely vascular in nature.  This results in abnormal development of that side of the face.  

The likelihood of recurrence in a family’s future children is low, <3%.   

How do we treat HFM? 
For the rare situation where there might be a family history of similar facial appearance, a geneticist is present at the team meeting to discuss the possibility of an inheritable trait.  In our patients that show abnormal ear growth or absence of the ear, an initial evaluation of hearing is pursued.  Typically the internal organs of hearing are normal and the child can hear fairly well, even without and external ear or ear canal.  Reconstruction of an absent or malformed ear is typically performed after 5-6 years of age.  If the facial structure is smaller on one side, we often observe the child as they grow and only intervene when a functional deficit is noted, for example poor TMJ function.  The findings in our HFM patients are variable and thankfully, most often mild.  In all of our HFM patients, we rule out any further spinal, ocular, or vertebral abnormalities.

Microtia 

What is microtia?
Microtia can be as severe as the absence of one or both ears or simply misshapen or malformed cartilage. There are multiple grading scales for microtia described in literature ranging from the congenital absence of the ear (anotia) versus milder forms of microtia.  

What causes microtia? 
There is no certain answer to this question. We know that microtia results from a problem with ear development while a fetus is growing in the womb. Sometimes, microtia can run in a family, or as part of a syndrome called hemifacial microsomia—but most of the time, it happens for no identifiable reason.  

How do we treat microtia? 
In some cases simple molding of the ear in the first 6weeks of life is all that is necessary.  In more severe cases of microtia, outside cartilage must be brought in (typically rib) to reconstruct the entire external structure or to improve the appearance and shape of the ear.  

Pierre Robin Syndrome

What is Pierre Robin Syndrome?
Pierre Robin syndrome (or sequence) is a condition present at birth, in which the infant has a smaller-than-normal lower jaw, a tongue that falls back in the throat, and difficulty breathing as well as feeding. 

What causes Pierre Robin Syndrome?
Pierre Robin Syndrome/Sequence may occur in conjunction with other syndromes or birth defects.   When Pierre Robin Syndrome occurs without any other issues, the true cause may not be found.  

How do we treat Pierre Robin syndrome?
We can usually diagnose this condition during a physical exam after birth and less frequently by ultrasound before birth. Treatment includes modified sleep positions, and in moderate cases patients may need a tube through the nose and into the airways to avoid blockage. In severe cases, surgery is needed to prevent a blockage in the upper airway and to improve feeding. Surgical interventions include surgery to increase the lower jaw size, called mandibular distraction, or to make a hole in the windpipe (tracheostomy)

Pfeiffer Syndrome

What is Pfeiffer Syndrome?
Pfeiffer Syndrome is a craniofacial syndrome that affects growth of the upper face, skull as well as the shape and position of fingers and toes. The skull is affected by craniosynostosis and the upper facial growth is inhibited leading to underdevelopment of the forehead, cheekbones and upper jaw. The thumbs and big toes are wide and bent away from the other fingers and toes.

What causes Pfeiffer Syndrome?
Pfeiffer Syndrome is a rare genetic disorder that affects around 1 in 100,000 newborns. It is caused by a genetic mutation in the Fibroblast growth factor receptor (FGFR) genes. It can occur on its own or be inherited from a parent. Parents have a 50% chance of passing on Pfeiffer Syndrome.

How do we treat Pfeiffer Syndrome?
We treat Pfeiffer Syndrome by first addressing all the problems the baby might have. The team geneticist examines the baby and performs genetic testing.

The malformation of the skull and facial bones are addressed by treating the craniosynostosis while the baby is between 6-12 months of age. The facial growth and the misalignment of the jaws is treated when the child is older based on their development.

Saethre-Chotzen Syndrome

What is Saethre-Chotzen Syndrome?
Sathre-Chotzen Syndrome is a craniofacial syndrome that involves craniosynostosis, or premature fusion of the skull sutures. This results in a tall forehead with drooping of the eyelids, wide spacing of the eyes and widened nose, and malformation of the ears. Fingers and toes are rarely involved.

What causes Saethre-Chotzen Syndrome?
Saethre-Chotzen Syndrome is a rare genetic disorder that affects around 1 in 25,000 to 1 in 50,000 newborns. It is caused by a genetic mutation in the TWIST1 gene. It can occur on its own or be inherited from a parent. Parents have a 50% chance of passing on Pfeiffer Syndrome

How do we treat Saethre-Chotzen Syndrome?
We treat Saethre-Chotzen Syndrome by first addressing all the problems the baby might have. The team geneticist examines the baby and performs genetic testing.

The malformation of the skull and facial bones are addressed by treating the craniosynostosis while the baby is between 6-12 months of age.

Any other malformations are addressed based on the development of the child.

Treacher-Collins syndrome

What is Treacher-Collins syndrome?
Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face. 

What causes Treacher-Collins syndrome?
The condition can be passed down through families (inherited), but most of the time there is not another affected family member.

How do we treat Treacher-Collins syndrome?
Various conditions may require plastic surgery.