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Craniofacial Center

Frequently Asked Questions

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  • Cleft lip and/or palate
  • Cleft lip surgery
  • Cleft palate surgery 
  • Pierre Robin sequence
  • Apert syndrome
  • Crouzon syndrome
  • Pfeiffer syndrome
  • Beckwith-Wiedemann syndrome
  • CHARGE
  • Hemifacial microsomia
  • Moebius syndrome
  • Treacher Collins


    What is Cleft Lip/Palate?
    A cleft is a division or separation of parts of the lip, or roof of the mouth that did not close during the early months of fetal life. The lip and palate are present; they just did not fuse together. There are several types of cleft lip, from an incomplete cleft such as a notching of the lip, to a complete cleft, extending to the lip and nose. Cleft palate may also vary in size, which may include involvement of the uvula and the soft palate, to a complete cleft of the hard palate.
     
    Why did this happen?
    A Cleft lip and/or palate occurs in approximately 1/700 births. Cleft lip and/or palate usually occurs as an isolated finding and it is not usually associated with any other birth defect. In these cases, the exact causes of the cleft lip and/or palate is unknown, but most experts feel it is due to both environmental and genetic factors. However, in some cases the cleft lip and/or palate may be caused by an underlying genetic condition or due to an exposure during pregnancy.
    Many parents blame themselves and experience many guilt feelings. It is important to know that this is not anyone's fault. It is painful to know that your child has a cleft and you may feel that your dreams of a perfect child have been shattered, but letting go of guilt feelings is important to better help your baby.
     
    Treatment for Cleft Lip and Palate
    With proper treatment your child's cleft/lip palate can be repaired. With time your child will look normal, eat without difficulty, and speak like other children. This will all be possible through a craniofacial multidisciplinary team that will work with you and your child to develop and carry out a plan that will meet your child's needs. The team concept allows all relevant specialties to come together to plan your child's care and address issues (in a timely way).

    Treatment includes:
     
    Nasoalveolar molding (NAM)
    For many newborns with a cleft lip or nose, reconstructive treatment can begin soon after birth with use of a pre-surgical device known as a nasoalveolar molding (NAM) appliance. This equipment, which is made of acrylic, is used by the Craniofacial Center team to support repair of the child’s lip and nose, and can help reduce the amount of surgical treatment required. The device is utilized to:
    • Restore the relationship between the skeleton, cartilage and soft tissue pre-surgically
    • Align and approximate the alveolar segments
    • Correct positioning of the nasal cartilage
    • Correct the nasal tip as well as the position of the area below the nose to the upper lip and the portion of the nose between the nostrils

    First Steps
    Children should be evaluated by the Craniofacial Center staff shortly after birth, preferably when the infant is 1 to 2 weeks old. At that time, the team will assess the child to see if he or she is a candidate for the NAM device.
    First, an impression will be taken of the child’s arch using a soft, putty-like material inside an impression tray. A nasal impression may also be made.
     
    Treatment Stages and Duration
    Once a child is identified as a candidate, treatment is coordinated in stages.
     
    Stage 1 (Leveling and alignment of alveolar segments):
    When the device is initially inserted, you and your baby will be asked to remain at the doctor’s office for a couple of hours for monitoring. Thereafter, the plate will be adjusted approximately every two weeks. The alveolar segments will be moved about two to three millimeters with each adjustment.  The device will be kept in place with a special tape and elastic bands that will apply upward and backward pressure.
     
    Stage 2 (Addition of nasal stent):
    At this stage, a nose piece will be added to the mold to support the nasal tip and promote the growth of tissue. The nose piece will be modified at each visit, according to the child’s individual needs. After receiving the nose piece, the child will produce more saliva initially until he or she adapts to the appliance. Adaptation takes approximately two days.

    Treatment Duration:
    The length of time that treatment is maintained depends on each patient and his or her specific needs.  The device is typically utilized until surgery is performed.
     
    Special Problems

    Feeding a baby with a cleft
    A baby with a cleft lip usually does not have trouble feeding.  He or she may require a specialized bottle.  A baby with a cleft palate has difficulty sucking the milk through the nipple.  There are nipples and bottles (Haberman Special Needs Feeder or Mead Johnson Cleft lip and/or palate nurser) that are especially designed for children with clefts.  If a baby has a cleft palate and has difficulty feeding, sometimes a palatal appliance that fits into the roof of the mouth is used.

    Haberman Feeder
    The Haberman Feeder has a long nipple, which is manually compressed providing steady milk flow.  There is also a one way valve between bottle and nipple to decrease the amount of air swallowed by the infant.  Additionally, the nipple has a variable flow feature to control the rate of liquid flow out of the bottle.   For more information on using the bottle please visit medela at: http://www.medelabreastfeedingus.com

    Mead Johnson Cleft Palate Nurser
    The Mead Johnson bottle has a soft plastic compressible bottle and a cross cut nipple that is slightly longer and narrower than a regular nipple.  The long nipple assists in obstructing the cleft palate.  The soft compressible bottle assists parents to control the rate of milk delivered to the baby’s mouth.  Rhythmic squeezing of the bottle cue’s the infant to swallow which helps prevent the milk from coming through the nose.

    Breastfeeding a baby with a cleft
    Breast milk is the best food for babies.  Babies with a cleft lip can usually breastfeed, but most babies with a cleft palate have a difficult time breastfeeding.  The team’s lactation counselor or the hospital’s lactation consultant can help you determine the best way to feed your baby. 

    Ear problems in a baby with a cleft palate

    Babies with a cleft palate are more likely to have fluid in their ears because of the anatomical problems associated with a cleft.  Fluid buildup in the ear can cause hearing loss.  If the hearing loss is not properly managed and treated, speech development may be affected.  In cases where the fluid persists, pressure equalizing tubes (PE tubes) may be inserted into the eardrum to drain fluid.  The babies hearing and speech will be closely monitored on each visit to prevent any problems. 

    Speech problems in a baby with a cleft lip and/or palate

    Children with a cleft lip generally have no problems with speech.  Some children with a cleft palate may develop speech at a slower rate.  Their words may sometimes sound nasal, and they may have difficulty with consonant sounds.  Some children will require speech therapy or additional surgery to improve speech later on.
     
    Cleft Lip Surgery
    Surgery for cleft lip is usually performed when the child is between 4 and 6 months of age.
     
    What to expect
    Your child will be admitted to the hospital the morning of the surgery.  You will receive a call from the hospital the day before surgery with instructions on when to feed your child last and what time to be at the hospital.  Your child will have an intravenous line until he or she is able to drink well by mouth.  You will be able to feed your baby clear liquids shortly after surgery.  Once your baby is tolerating the clear liquids well, you will be able to add formula and soft foods gradually.  Your child will be unable to eat solid foods or use a pacifier after surgery until your physician clears you.  After surgery, your child will have soft immobilizers on the arms to protect the incision site.  You will be asked to keep these on for approximately 2 weeks. You can take them off for baths and short rest periods always making sure that the child’s hands do not touch the lips. Your child will also go home with a metal loop, called a logan bow, over the lip that will help protect the lip from injury.  Do not remove the logan bow.  If the tape becomes loose, add more tape to secure it.  The logan bow will stay on for approximately one week.
     
    Pain Management:   
    Your child will initially receive pain medicine through the IV line.  Once he or she can tolerate food, the pain medicine will be given by mouth.  After you go home, your child may still experience some discomfort that can be relieved with Tylenol or Motrin.  Your doctor will also provide you with a prescription for a stronger pain medication if needed.

    Stitches: 
    The stitches that are used are self dissolvable.  They will generally come out in about 7 days.
     
    Swelling and Drainage: 
    It is okay to have small amounts of drainage or blood from the incision site or nose.  This drainage will decrease
    over time.
     
    Cleaning the incision: 
    It is important to keep the incision site clean.  It can be cleaned with mild soap and water.  After cleaning, you should apply a small amount of antibiotic ointment.
     
    Once you are home:  
    Most children will go home the day after surgery.  You will have a follow-up appointment about a week after surgery.
     
    When to call the doctor:
    Fever of 101 or higher
    Drainage with foul odor or yellow-green drainage
    Increased amount of blood from the incision site
    If your child is not eating or drinking enough or appears to be dehydrated (little or no urine, no tears)
    If your child is not breathing well
     

    Cleft Palate Surgery
    Surgery for cleft palate is usually performed when the child is between 12 and 18 months of age. 

    What to Expect
    Your child will be admitted to the hospital the morning of the surgery.  You will receive a call from the hospital the day before surgery with instructions on when to feed your child last and what time to be at the hospital.  After surgery, your child will have soft immobilizers on the arms to protect the incision site.  You will be asked to keep these on for approximately 2 weeks.  Your child will have an intravenous line until he or she is able to drink well by mouth.  You will be able to feed your baby clear liquids shortly after surgery.  You will not be able to use a straw until the palate is healed.  Once your baby is tolerating the clear liquids well, you will be able to add formula and soft foods gradually.  Your child will be unable to eat solid foods or use a pacifier for after surgery until your physician clears you. 
     
    Pain Management: 
    Your child will initially receive pain medicine through the IV line.  Once he or she can tolerate food, the pain medicine will be given by mouth.  After you go home, your child may still experience some discomfort that can be relieved with Tylenol or Motrin.  Your doctor will also provide you with a prescription for a stronger pain medication if needed.



    Stitches:
    The stitches that are used are self dissolvable.  They will generally come out in about 7 days. 


    Swelling and Drainage:
    It is okay to have small amounts of drainage or blood from the incision site or nose.  This drainage will decrease over time.
    Cleaning the incision:  Offer water to your child after feedings or rinse out his or her mouth using a syringe and water. 

     

    Once you are home: 

    Most children will go home the day after surgery.  You will have a follow-up appointment about a week after surgery.

    When to call the doctor:
    Fever of 101 or higher
    Drainage with foul odor or yellow-green drainage
    Increased amount of blood from the incision site
    If your child is not eating or drinking enough or appears to be dehydrated (little or no urine, no tears)
    If your child is not breathing well


     

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    Pierre Robin Sequence
    In 1923, a French physician named Pierre Robin described a child with a small jaw, tongue that is displaced back towards the throat and cleft palate.  Therefore, this combination of findings became referred to as Pierre Robin (pronounced Roban) Sequence.  Other names have been used for the condition such as Pierre Robin Syndrome and Pierre Robin Triad.  Common clinical characteristics of Pierre Robin Sequence are micrognathia (small lower jaw) or retrognathia (set back lower jaw), glossoptosis (displacement of the tongue to the back of the throat), cleft palate.

     

    What causes Pierre Robin Sequence?
    Between 7-10 weeks of pregnancy, a fetus’s jaw grows rapidly which allows the tongue to move down away from the roof of the mouth.  Once the tongue has moved down, the palate (roof of the mouth) can close.  If the lower jaw is small, there is not enough space for the tongue to move down.  The tongue then moves towards the back of the mouth often resulting in the palate not closing (cleft palate). Because it is a sequence of events that occurs to cause this condition, it is called Pierre Robin Sequence.

    Most children with Pierre Robin Sequence (PRS) will not have other problems and in those children PRS is an isolated finding. However, some children will have an underlying genetic condition associated with Pierre Robin Sequence.  Children with PRS should be evaluated by a Clinical Geneticist to determine if PRS in their child is isolated or part of a genetic condition.

    In children with isolated Pierre Robin Sequence, the cause is often unknown. However, crowding of the fetus during pregnancy, decreased jaw movement due to neurological conditions, and possibly genetic factors are thought to play a role in PRS. 

    What is the prognosis for my child with Pierre Robin Sequence?
    Children with Pierre Robin Sequence often have difficulty with feeding and breathing during early infancy.  All children should be evaluated and monitored closely by a multidisciplinary Craniofacial Team during this period.  Children with more significant feeding and breathing difficulties may need specialized medical and/or surgical intervention.  With appropriate management, children with Pierre Robin Sequence will attend school, have friends, and most of all enjoy life! 

     

     


     


     

    Apert syndrome
    Apert syndrome was first described in 1894 by Dr. Wheaton and was further characterized by Dr. Apert in 1906.  This condition is also called Acrocephalosyndactyly, which means a domed shape of the head with fusion of the fingers.  The primary clinical signs of Apert syndrome are:

    Craniosynostosis (premature closuse of the sutures of the skull) causing the head to have a tall, “domed” appearance
    Flat midface
    Wide space eyes
    Cleft palate
    Syndactyly of fingers and toes (fusion of the skin and bones of fingers and toes) 
    Other features of Apert syndrome include variable developmental delay, significant acne during the teen years, and brain anomalies.

     
    What causes Apert syndrome? 

     

    This condition is caused by a change (“mutation”) in a gene called the Fibroblast Growth Factor Receptor Gene 2 or more simply FGFR2.   Each person has two copies of the FGFR2 gene.  It only takes a mutation in one member of the FGFR2 gene pair to cause the clinical signs of Apert syndrome.  Apert syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Apert syndrome, his/her offspring would have a 50% for also having Apert syndrome. 
    Most individuals with Apert syndrome are the first cases in the family.  This means that the parents of the affected child do not have Apert syndrome. If a child’s parents do not have Apert syndrome, the risk to their other pregnancies is low. However, an increased risk for this condition has been found in pregnancies of older fathers. 

    What is the prognosis?
    With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are required for these children but most will ultimately have useful function of the hands, attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.

     

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    Crouzon Syndrome
    Crouzon syndrome was first described in 1912 by Dr. Crouzon This condition is also called Craniofacial Dysostosis (condition involving the bone of the face).   The primary clinical signs of Crouzon syndrome are:

    Craniosynostosis (premature closure of the sutures of the skull)
    Ocular proptosis (protruding eyes)
    Protruding jaw and forehead
    Hearing loss. 
    Normal intelligence.

    What causes Crouzon syndrome?
    Most cases of this condition are caused by a change (“mutation”) in a gene called the Fibroblast Growth Factor Receptor Gene 2 or more simply FGFR2. There are some individuals with Crouzon syndrome that also have a skin condition called acanthosis nigricans and have mutations in the FGFR3 gene.   Crouzon syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Crouzon syndrome, his/her offspring would have a 50% for also having Crouzon syndrome. 

    Most individuals with Crouzon syndrome are the first cases in the family.  This means that the parents of the affected child do not have Crouzon syndrome. If a child’s parents do not have Crouzon syndrome, the risk to their other pregnancies is low.  However, an increased risk for Crouzon syndrome as been found in pregnancies of older fathers.

    What is the prognosis?
    With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are often required for these children but most will ultimately attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.

     

     


     

    Pfeiffer Syndrome 

    Pfeiffer syndrome was first described in 1964 by Dr. Pfeiffer.  This condition is also called Acrocephalosyndactyly –Pfeiffer –type which means “tall” head with variable fusion of the fingers.  Pfeiffer syndrome has been divided into three clinical categories based on the clinical features found in the affected individual:

    Type 1
    Craniosynostosis (premature closure of the skull sutures)
    Broad thumbs and great toes with variable fusion of bone/skin of fingers (syndactyly)
    Normal/near normal intelligence

    Type 2
    Cloverleaf shaped skull due to craniosynostosis of multiple sutures.
    Severe ocular proptosis (protruding eyes)
    Broad thumbs and great toes
    Central nervous system anomalies
    Limited extension of elbow

    Type 3
    Similar to type 2 without cloverleaf shaped skull
     
    What causes Pfeiffer syndrome?
    This condition is caused by a change (“mutation”) in a gene that is part of a group of genes called the Fibroblast Growth Factor Receptor Genes (FGFR).  Mutations in two FGFR genes have been found in individuals with Pfeiffer syndrome. The two genes are FGFR1 and FGFR2.  Mutations in FGFR1 are usually found in the milder cases (Type 1) where as mutations in FGFR2 are found in persons with Types 2 and 3.  Pfeiffer syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Pfeiffer syndrome, his/her offspring would have a 50% for also having Pfeiffer syndrome. 

    Most individuals with Pfeiffer syndrome are the first cases in the family.  This means that the parents of the affected child do not have Pfeiffer syndrome. If a child’s parents do not have Pfeiffer syndrome, the risk to their other pregnancies is low.

    What is the prognosis?
    With aggressive medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are required for these children but most will ultimately , attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, most of these children can grow to healthy adults.

     

     


    Beckwith-Wiedemann Syndrome
    Beckwith-Wiedemann Syndrome was described first in 1963 by Dr. Bruce Beckwith, a pathologist, and then by Dr. Hans Rudolph Wiedemann, a German Geneticist in 1964.  These physicians identified children who had body overgrowth, omphalocele, macroglossia, and hypoglycemia.  Children who had these findings occurring together were described as having Beckwith-Wiedemann Syndrome. Approximately 1 in 13,700 people have Beckwith-Wiedemann Syndrome.

     


    Common clinical characteristics of Beckwith Wiedemann are:

    • Macroglossia (large tongue)
    • Macrosomia (large body size) and/or Hemihypertrophy (one side of body is bigger than the other side)
    • Neonatal hypoglycemia (low blood sugar as newborn babies)  
    • Increased risk for certain types of tumors such as Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor) 
    • Omphalocele (born with intestines on the outside of the body) or umbilical hernia
    • Crease or pits on the ears 
    • Normal Intelligence

     

    What causes Beckwith-Wiedemann?
    Beckwith-Wiedemann is caused by changes in activity of genes that either suppress or promote growth of cells in an individual’s body. These genes are on chromosome 11. In body cells, each person has 46 chromosomes that come in 23 pairs. Therefore, each person has two copies of every chromosome, one copy that is inherited from a person’s mother and the other from a person’s father.  Genes are housed on the chromosomes. There are many genes on each chromosome.  Because chromosomes come in pairs, genes also come in pairs. Like chromosomes, a person inherits one of every gene from their mother and one of every gene from their father.  For most genes, the genes inherited from both parents are active (“turned on”). However, in Beckwith Wiedemann, some genes are only active on the chromosome 11 inherited from one’s father and others are only active on the chromosome 11 inherited from a person’s mother.  There are several ways that the way these genes are expressed can be changed and result in Beckwith-Wiedemann Syndrome.  Special testing and evaluation with a Geneticist is necessary to determine the way the expression of theses genes is changed in an individual. Most individuals with Beckwith-Wiedemann are the first affected in the family and the risk for recurrence is low. However, in those individuals with a family history, the risk can be as high as 50%.

    What is the prognosis for my child with Beckwith-Wiedemann?

     With proper management, the prognosis for most children with this condition is positive. With careful monitoring for tumor development through ultrasound and serum alpha-fetoprotein, as well as necessary evaluation for any additional findings, these children will attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team and/or clinical geneticist, these children can grow to healthy and happy adults.

     

     

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    Hemifacial Microsomia or Oculo-Auriculo-Vertebral Spectrum

    What is Oculo-Auriculo-Vertebral Spectrum?
    This condition goes by many names including Hemifacial Microsomia, Goldenhar Syndrome, Facio-Auriculo-Vertebral Spectrum, and Oculo-Auriculo-Vertebral Dysplasia. The different names arose initially because different people used their own clinical descriptions for what was later found to represent one condition that can include a large spectrum of clinical findings. Some individuals will have many of the findings and others a few.  Therefore, the condition is now called “Oculo-Auriculo-Vertebral Spectrum” (OAVS). Common clinical characteristics are underdeveloped upper and lower jaw, underdeveloped facial muscles and surrounding bones, underdevelopment of the outer ear (microtia), ear tags, middle ear anomalies, hearing loss, vertebral anomalies.  The facial anomalies typically affect one side of the face but can occasionally affect both sides of the face. Other anomalies can include cleft lip and palate, epibulbar dermoids (dermoid cysts on the eye) and upper eyelid coloboma (notch), congenital heart defects, and kidney abnormalities.

     

    What causes OAVS?
    The exact cause of OAVS is unknown. Research suggests that it caused by disruption of the 1st and 2nd brachial arches at ~4 weeks gestation. The brachial arches are fetal structures very important in the formation of the bones, muscles, and nerves of the face. Several reasons for the condition have been considered one which is a disruption in blood supply to the brachial arches during early fetal development.

    OAVS usually occurs sporadically in a family meaning that there are no other affected family members.  However, it has been reported to be inherited in some families. Therefore, it is important for individuals with this condition to have a genetic evaluation.  Based on available information, the risk for OAVS in sisters/brothers or children of a person affected with OAVS is approximately 2%. Women who are diabetic have a higher risk for having child with this condition.

    What is the prognosis for my child with OAVS?
    With close medical attention, the prognosis for most children with this condition is positive. With care attention to hearing and management of various anomalies, these children will attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.

     

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    Moebius Syndrome

    Moebius Syndrome is a rare condition which it primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally.  Characteristics of Moebius Syndrome include:

    Impaired ability in infants to suck
    Inability to follow objects with one's eye -- instead the child turns his/her head to follow
    Lack of facial expression
    Strabismus (Crossed eyes)
    Inability to smile
    Motor delays
    Hearing problems
    Speech difficulties

     


    What causes Moebius Syndrome?
    It is thought to be caused by a vascular disruption early in fetal development.  It is typically a sporadic occurrence, meaning it occurs only once  in a family.

     

    What is the prognosis? 

    With close medical attention, the prognosis for most children with this condition is positive.

     

     

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    Treacher-Collins Syndrome
    Treacher Collins described two patients with features of this condition in 1900.  Additional description of the condition was made by Franceschetti and Klein. They called the condition Mandibulofacial Dysostosis (abnormal bone formation of the face). The primary clinical signs of Treacher syndrome are:

    Down-slanting eyes
    Coloboma (defect) of the lower eyelid
    Some missing eyelashes on the lower eyelid
    Underdevelopment of the bones in the upper and lower jaw and bone under the eyes (zygoma)
    Ear anomalies (external and internal)
    Normal intelligence
     
    What causes Treacher Collins syndrome? 

    Most cases of this condition are caused by a change (“mutation”) in a gene called the TCOF1 gene on chromosome 5. Treacher Collins syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Treacher Collins syndrome, his/her offspring would have a 50% for also having Treacher Collins syndrome. 

     

    Most individuals with Treacher Collins syndrome are the first cases in the family.  This means that the parents of the affected child do not have the condition. If a child’s parents do not have Treacher Collins syndrome, the risk to their other pregnancies is low. 

    Genetic testing is available therefore to accurately determine the risk for siblings to be affected, clinical genetics evaluation and counseling are recommended for all families.
    What is the prognosis?

    With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are often required for these children but most will ultimately attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.

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    CHARGE
    In 1979, Dr. B.D. Hall first described this condition.  Then in 1981, the acronym CHARGE was given to children who had a cluster of features occurring together. Each letter in the name CHARGE stands for a common clinical finding in children with this condition. 

    C:    Coloboma of eye. This is like a cleft (opening) and can involve the iris (colored part of the eye), retina, or disc. Microphthalmia (small eye) can also occur.
    H:    Heart defects
    A:    Choanal atresia (narrowing of the passages that go from the nose to the back of the throat).

    R:    Retarded growth and development
    G:    Genital abnormalities
    E:    Ear anomalies (short wide ear with “snipped” off outer helix and prominent inner fold). Children also have hearing loss due to abnormalities of the middle and inner ear.

     

    Other anomalies can include facial palsy (paralysis of facial nerves), brain abnormalities, cleft lip and palate, kidney abnormalities, and characteristic facial features.

     
    What causes CHARGE Syndrome?
    CHARGE is caused by a change (“mutation”) in a gene called the CHD7 on chromosome 8.  In body cells, each person has 46 chromosomes that come in 23 pairs. One member of each chromosome pair is inherited from an individual’s mother and the other from the father. Therefore, each person has two copies of chromosome 8, one copy that is inherited from a person’s mother and the other from a person’s father.  Each chromosome is divided into two parts, a short arm called the “p” arm and the long arm known as the “q” arm.  The CHD7 gene is on the “q” arm of chromosome 8.

     

    Approximately 60-70% of individuals with typical clinical features of CHARGE, will have a change in the gene detected through routine testing of the gene called “sequence analysis". A smaller percentage of individuals with CHARGE have deletions (material  missing) or duplications (additional genetic material) in the CHD7 gene which requires specialized testing. Most individuals with CHARGE do not have an affected parent. Once a person has CHARGE, there is a 50% chance that they will have children with similar problems.

    What is the prognosis for my child with CHARGE?

    With proper management, the prognosis for most children with this condition is positive. With careful monitoring and management of visual, hearing, craniofacial, and cardiac (heart) issues, these children will attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team and/or clinical geneticist, these children can grow to healthy and happy adults.

     
    If you have further questions, please contact the Miami Children's Hospital Craniofacial Center at 305-662-8237 or toll free at 1-800-662-8502 or via email at craniofacialteam@mch.com

     


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    Additional Craniofacial Resources:

     

    Children's Craniofacial Association

    Cleft Lip / Palate - Frequently Asked Questions

    Meet the Craniofacial Team

    Craniofacial Patient Success Stories

    Craniofacial Related Links

    Main Craniofacial Center page

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