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Types of Craniosynostosis

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Associated Syndromes

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Associated Syndromes

 

What is a syndrome?

A craniofacial disorder refers to an abnormality of the face and/or the head. Craniofacial differences can result from abnormal growth patterns of the face or skull, which involves soft tissue and bones. A craniofacial condition may include disfigurement brought about by birth defect, disease or trauma

A Syndrome is simply defined as a group of symptoms that collectively indicate a disease, psychological disorder, or other abnormal condition. There are more than 150 syndromes which are associated with craniofacial abnormalities, furthermore, the human genome is estimated to contain about 80,000 genes, and so many rare syndromes may have yet to be defined. Here, I have highlighted a few of the more well-known syndromes that can affect both soft tissue and bone. While some children with Craniofacial Syndromes can have some learning and/or speech delays most children affected with craniofacial syndromes have normal intelligence.

Procedures to fix some of these syndromes might be simple because they are so minor that the symptoms might go undiagnosed for several generations in a family. Others are evident at birth and require a lifetime of surgeries to fix defects in both bones and soft tissue.

If your child is born with a craniofacial syndrome one of the first things you will need is a good multispecialty and craniofacial team. Ears, eyes, teeth, airway, speech, & cognitive development will most likely need to monitor throughout childhood and sometimes into adulthood. It is imperative to find the team that is a right fit for you and your child because they will become a big part of your soon to be extended family.

Crouzon Sydrome:
Crouzon syndrome is an autosomal dominant disorder founded by a man named Crouzon in 1912. Thought to be responsible for approximately 4.8% of all cases of craniosynostosis Crouzon Syndrome happen one in 60,000 births. Crouzon Syndrome is caused by mutations on the FGFR2 and FGFR3 genes. Some families have been found to have mild symptoms of Crouzon Syndrome while other cases occur sporadically. A child born with Crouzon Syndrome will have a 50/50 chance of passing the syndrome onto their own children.

Craniosynostosis of the coronal and sagittal sutures are most common with Crouzon Syndrome. Other features can include a shallow midface, shallow orbits of the eyes which can cause the eyes to protrude and bulge, a compressed nasal passage with a beaked appearance to the nose, overcrowding of upper teeth and a high-arched palate, low-set ears with narrow or absent ear canals and/or deformed middle ears, cervical fusion occurs in about 18% of the cases.

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Apert Syndrome
Apert syndrome was founded in 1906 by Eugene Apert. Apert is an autosomal disorder , meaning only one parent needs to have the gene to pass it onto future children. It is caused by mutations on the FGFR2 gene & occurs one in 160,000 to one in 200,000 births. Crouzon Syndrome can be passed onto any race or gender. Although, a child born with Apert syndrome has a 50/50 chance of having children born with Apert Syndrome almost all cases are sporadic having never been seen in a family.

Due to fusion of multiple skull sutures (Craniosynostosis) cranial malformation is the most apparent effect. The coronal sutures are most often effected which will cause a high, prominent forehead with a flat back of the skull. A flattened midface can cause breathing and eating problems. A high arched palate can cause overcrowding and underdevelopment of teeth. Shallow and flattened orbits to the eyes can cause the eyes to be broadly spaced and bulged. Lastly, Apert Syndrome includes full fusion of fingers and toes as well as well as fusion of the bones in the fingers and toes can reduce their function and mobility.

Pfeiffer Syndrome
Pfeiffer syndrome is an autosomal dominant condition caused by a mutation in a FGFR1 and FGFR2 genes.

The diagnosis of Pfeiffer syndrome is usually made on a clinical basis. The combination of broad thumbs and great toes along with typical craniofacial features usually raises the consideration of this diagnosis. However, due to the wide range of severity of the features, there are three types of Pfieffer Syndrome.

Type I is considered to be classic Pfeiffer syndrome. This would include craniosynostosis of the cranial sutures leading to an altered head shape. Most commonly, the coronal sutures are involved, leading to a high and broad skull. Typical facial features include down slanting eyes and an underdeveloped nasal bridge. The hands and feet show broad thumbs and great toes, as well as some joining of the soft tissues between the digits (syndactyly). The great toes may be turned inward. In a small percent of patients, there is a fusion of bones at the elbow, limiting the range of motion at this joint. Type 1 is the mildest of the three forms, and prognosis is good, with generally normal intelligence and lifespan

Type 2 is associated with a cloverleaf skull. This is a severe form of craniosynostosis involving multiple fused sutures and creating a dramatic, tri-lobed appearance to the skull. These patients have markedly protuberant eyes (called proptosis), as well as a higher incidence of elbow fusion and other clusters of anomalies. The hands and feet appear similar to those in Type 1. The prognosis for Type 2 patients is poor, with a high likelihood of neurologic problems and early death.

Type 3 Pfeiffer syndrome is used to classify patients who have the severe proptosis and unusual anomalies seen in type 2, but lack a cloverleaf skull shape. The hand and foot findings are again similar to the other types. This type also has a poor prognosis due to neurologic involvement, and lifespan is similarly shortened.

Mercedes Benz Syndrome:
One of the more recently discovered syndromes. Mercedes Benz is named for the external cranial ridging associated with fusion of the lambdoid and Sagittal sutures which produces a characteristic triradiate, or "Mercedes Benz," appearance to the back of the skull. Growth restriction to the back of the skull can cause a bossing to the front that mimics the look of bicoronal craniosynostosis. Due to the rare occurrence of Lambdoid suture fusion parents that suspect Mercedes Benz Syndrome should do a lot of research and make sure they find a highly qualified craniofacial surgeon to fit their child's needs.

Muenke Syndrome:
Muenke Syndrome is caused by a mutation in the FGFR3 gene. It is an autosomal dominant disorder that can be traced into several generations of a family as well as occur in sporadic cases. A child that has Muenke Syndrome will have a 50/50 chance of passing the syndrome onto future children. Discovered in the last ten years the incidence of Muenke syndrome has not been determined, but this disorder is thought to likely the most common craniosynostosis syndrome.

The primary feature of this disorder is the premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull are often abnormally formed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. About 5 percent of affected individuals have an enlarged head (macrocephaly). Most people with this condition have normal intellect, but learning disabilities are possible.

The primary feature of this disorder is the premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull are often abnormally formed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. About 5 percent of affected individuals have an enlarged head (macrocephaly). Most people with this condition have normal intellect, but learning disabilities are possible.

Goldenhar Syndrome(hemifacial microsomia):

Goldenhar Syndrome is a congenital birth defect which involves deformities of the face. It usually affects one side of the face only. Characteristics can include, a partially formed or totally absent ear (microtia), the chin may be closer to the affected ear, one corner of the mouth may be higher than the other, benign growths of the eye, and/or a missing eye. In addition to the physical characteristics common to Goldenhar, an effected child may have hearing problems, weakness in moving the side of the face that is smaller, dental problems - the soft palate may move to the unaffected side of the face, the tongue may be smaller on the affected side of the face, and/or fusion of the bones of the neck.

Doctors are uncertain why Goldenhar occurs. However, they do not believe it is the result of anything the mother did while she was pregnant. Environmental factors may play a part and there does seem to be an increased incidence of Goldenhar among the children of Gulf War Veterans. Parents that have one child born with Goldenhar syndrome have only a 1% chance of having other children with the syndrome while a child born with Goldenhar Syndrome only have about a 3% chance of passing on the syndrome.

Miller Syndrome (postaxial acrofacial dysostosis):

Research is still being conducted; however, it is believed that Miller Syndrome is inherited as an autosomal recessive genetic trait. That means that it is passed on when both parents carry a recessive gene with the Miller Syndrome trait. If both parents carry the gene for Miller Syndrome there is a good chance that future children will also be effected by the syndrome.

Facial characteristics of Miller Syndrome include underdeveloped cheekbones, abnormally small jaw (micrognathia), cleft palate, small, protruding "cup-shaped" ears and drooping of the lower eyelids. In addition to the facial abnormalities a child with Miller Syndrome may also have incomplete limb development, webbing of fingers or toes, absence of certain fingers and /or toes, and/or underdevelopment of the ulna (bones on the "pinkie" side) and the radius (bones on the thumb side) causing the forearms to appear unusually short.

Moebius syndrome:
Moebius syndrome is thought to be genetic, and most cases are sporadic, occurring once in a family. Research on the causes of Moebius Syndrome is not conclusive at this time.

Moebius syndrome is a rare neurological disorder that is present at birth. It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they canít smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally.

Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th. There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present. Approximately 30% of children with Moebius syndrome are on the autism spectrum.

Infants sometimes require special bottles (i.e. Special Needs or Pigeon Feeder) or feeding tubes to maintain sufficient nutrition. Strabismus (crossed eyes) is usually correctible with surgery. Children with Moebius syndrome usually benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating, as well as occupational and sensory integration therapies.

Limb and jaw deformities may often be improved through surgery. In addition, plastic reconstructive surgery of the face can offer benefits in individual cases. In that surgery, nerve and muscle transfers to the corners of the mouth have been performed to provide an ability to smile.

Nager Syndrome:

Nager Syndrome is rare, so rare that it is difficult to conduct genetic research. However, some initial studies indicate that Nager Syndrome may be passed on from one parent via a dominant gene.If it is true that the gene is dominant and is passed on from a parent, then the chances would increase of having another child with Nager Syndrome. Genetic testing is highly recommended.

Nager Syndrome is a condition resulting from problems in the development of the first and second branchial arches. The first arches produce the nerves and muscles for chewing, the lower jaw, two of three bones in the middle ear, and a small part of the ears. The second arches produce the nerves and muscles of facial expression, one bone in the middle ear, most of the external ears, and parts of the bone above the larynx. Characteristics which may or may not be present in a child with Nagar Syndrome are under development of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, and/or shortened forearms and poor movement in the elbow. Other possible problems associated with Nager Syndrome are possible limited range of arm motion, stomach and kidney reflux, and/or temporary or long-term hearing loss -- hearing evaluations should be conducted at an early age.

Parry-Romberg Syndrome:

Parry-Romberg Syndrome is a rare disorder characterized by slow progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy). It is thought to be more common in females than in males and usually begins between the ages of 5 and 15 years. Cases of disease onset in adulthood have been reported as well. Parry-Romberg Syndrome may also be accompanied by neurological abnormalities, optic nerve damage, bone loss, alopecia, and pigmentation irregularities. The cause of Parry-Romberg Syndrome is unknown and currently there is no cure for the disease.

Treacher Collins Syndrome:
Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development. About 40 percent of the time, one parent has the Treacher Collins Syndrome gene. Geneticists can now determine whether the Treacher Collins gene is a new mutation or one that has been passed on. Treacher Collins Syndrome may be inherited from a parent affected with Treacher Collins. There is a 50% change of passing it on if you have it. It may also occur in children of unaffected parents. The chances of Treacher Collins occurring again in children of unaffected parents are minute.

Treacher Collins Syndrome, also called mandibulofacial dysostosis, affects the head and face. Characteristics include down-slanting eyes, notched lower eyelids, underdevelopment or absence of cheekbones and the side wall and floor of the eye socket, lower jaw is often small and slanting, forward fair in the sideburn area, underdeveloped, malformed and/or prominent ears.

In addition to the physical characteristics common to Treacher Collins syndrome, a child may have some or all of the following problems breathing problems and/or eating difficulties, most children have a 40% hearing loss in each ear due to abnormalities of the outer and middle ear, which conduct sound to the nerve endings, the eyes have a tendency to dry out, which can lead to infection, and cleft palate often occurs with Treacher Collins Syndrome.

Most children with Treacher Collins have normal development and intelligence; however, it is important that there be early hearing tests. Most children with Treacher Collins Syndrome benefit from early intervention speech and language programs.

Saethre-Chotzen
Saethre-Chotzen is usually found in several generations of a family, as it is an inherited disorder; however, because the features are often so minor, many times it is never diagnosed. It is an "autosomal dominant" disorder caused by a change or "mutation" in only one copy of a gene from one biologic parent. A person affected with Saethre-Chotzen has a 50/50 chance of passing the syndrome on. The TWIST gene is known to cause Saethre-Chotzen syndrome. The TWIST gene is known to be active in the development of the head and limbs. If this gene is not working properly, the tissues in these regions may become "disorganized", causing problems in both locations (head/face asymmetry, early closure of the skull bones, "droopy" eyes, and shortened, thickened or webbed digits.

Saethre-Chotzen Syndrome is a very rare disorder characterized by fusion of the cranial structures which sometimes produces an asymmetric head and face, low-set hairline, droopy eyelids (ptosis) and/or widely spaced eyes ,"beaked" nose and possible deviated septum, abnormalities of the fingers and/or toes -- they are often short (brachydactyly) and some mild webbing (syndactyly) may be present.

Carpenter Syndrome
Carpenter Syndrome is an inherited autosomal recessive trait which means both parents have to carry the defective gene to pass it onto their children. Carpenter Syndrome has an estimated occurrence rate of approximately one in every one million live births.

The premature fusion of the cranial sutures causes the skull to grow abnormally with cloverleaf being the most common shape. Common differences of the facial region includes epicanthal folds ("oriental" looking eyelids), broad cheeks, low set, uneven and malformed ears, flat nasal bridge, small widely spaced teeth that are often late to erupt, wide upturned nose with large nasal openings, an underdeveloped maxilla and/or mandible, and a highly arched and narrow palate which can make speech difficult . Other physical characteristics associated with Carpenter Syndrome are polydactyly (extra digits), syndactyly (webbed or fused digits which develops before 6 weeks, post-conception), and brachydactyly (unusually short fingers, sometimes with just a single joint in each). There are heart defects in about half of the known cases. A single horseshoe shaped kidney rather than two separate ones, undescended testes in the males, abdominal hernias and rocker bottom feet are not unusual.

Mild to moderate mental deficiencies are common (about 75% of all cases), but not an obligate feature. A short, stock stature is also common because of the shortened proximal long bones (of the upper arms and legs, which at birth are sometimes mistaken for dwarfism).

Waardenburg Syndrome
Waardenburg Syndrome involves a cleft palate, displacement of the eyelids, partial albinism, a broad septum, deafness, and various limb defects. Premature cranial vault synostosis is not, however, a common effect of the condition.

 
 
Surgery stories
    

Cameron Rondi
Cameron Mark Rondi was born on the 10th of March at Olivedale Hospital. When he was born he was diagnosed with Craniosynosis, it was picked up at birth as he was born with facial distortion ...

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Blake Campbell
Blakes surgery day was 4 April 2006...

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Azia-lynn
(not so) little Azia-lynn is born 1 week early (on her original due date!) 8lb 15oz and 21 inches...

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Tiaan Heyns
Tiaan was diagnosed with Sagittal Synostosis at six weeks of age.

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Chris-Lee - Our Miracle Child
In January 2007 after several tests and treatment Ė I was told that I will not be able to have children. 

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Claire Badden

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For more information or support, please contact Robyn Rondi on - robyn.rondi@hotmail.com  or  082 601 8585