Craniofacial Conditions
Craniofacial anomalies are a highly diverse group of complex congenital anomalies. Collectively, they affect a significant proportion of the world. Craniofacial conditions involve all of the functions of the head and neck region including eating, breathing, smelling, vision, hearing and cognition. The diverse needs of a child with a craniofacial condition frequently requires specialists in the fields of reconstructive surgery, neurosurgery, otolaryngology, oral and maxillofacial surgery, psychology, speech therapy, audiology and nutrition.
Conditions that may be corrected with craniofacial reconstructive surgery include:
- Cleft lip and palate
Skull and facial deformities including:
- Craniosynostosis
- Crouzon Syndrome
- Apert Syndrome
- Craniofacial Microsomia
- Goldenhar Syndrome
Other rare syndromes affecting facial structures such as:
- Treacher-Collins Syndrome
- Pierre-Robin Sequence
- Nager Syndrome
- Tumors of the craniofacial region or skull base
- Craniofacial trauma
- Vascular malformations
Antley-Bixler Syndrome
Also called trapezoidocephaly-synostosis syndrome, a rare genetic condition that is primarily characterized by malformations of the head and facial (craniofacial) area and additional skeletal abnormalities.
The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities.
Apert Syndrome
A genetic disorder involving the abnormal growth of the skull and characterized by the premature fusion of skull bones (craniosynostosis). Early fusion of these bones prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes can be fused together.
The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Carpenter Syndrome
A rare genetic disorders also known as acrocephalopolysyndactyly or ACPS, that can be characterized by the webbing or fusion of certain fingers or toes. ACPS can also cause the premature closure of the fibrous joints between certain bones of the skull which is known as craniosynostosis, causing the top of the head to appear as cone shaped.
Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.
Cleft Lip and/or Palate
Classified as the openings or splits in the upper lip, roof of the mouth or both; cleft lip/palate results when facial structures in the developing stages of unborn baby do not close completely.
Cleft lip and cleft palate are among the most common birth defects. They most commonly occur as isolated birth defects but are also associated with many inherited genetic conditions or syndromes.
Craniosynostosis
A birth defect that occurs when one or more of the fibrous joints between the bones of the skull closes prematurely or fuses together before the brain is fully formed. As a result, the brain continues to grow but shape of the head becomes deformed.
Craniosynostosis usually involves fusion of a single cranial suture, but can involve more than one of the sutures in your baby’s skull (complex craniosynostosis). In rare cases, craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis).
Although neurological damage can occur in severe cases, most children have normal cognitive development and achieve good cosmetic results after surgery. Early diagnosis and treatment are key.
Crouzon Syndrome
A result from the premature fusion of skull bones and an abnormal growth, crouzon syndrome leads to wide-set bulging eyes, vision problems that are caused by shallow eye sockets, eyes not pointing in the same direction, a beaked nose and an underdeveloped upper jaw area.
In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.
Facial Cleft
A result from relative excesses or deficits of the tissue along linear anatomic planes, that cause deformations of the face and cranium.
More than one theory exists regarding the embryologic pathogenesis of facial clefts. Fetal craniofacial development is a complex series of events that occurs between the third and eighth weeks of gestation. During the initial stages, five facial processes (one frontal, two maxillary, two mandibular) form and subsequently fuse (by the sixth week of gestation) to form the human face. The classic theory states that facial clefting occurs when the fusion process is disrupted. However, other theories propose that the pathogenesis is related to the infarction of primordial blood vessels, amniotic bands, failure of certain developmental zones of the face to develop completely, or errors in cellular migration, penetration, and differentiation.
FIL (Facial Infused Lipomatosis)
A rare congenital disorder that occurs when mature lipocytes invades adjacent tissue, including soft-tissue and skeletal hypertrophy, dental eruption, and regional macrodontia.
There is a high risk for regrowth after resection that is, perforce, subtotal. The etiology, natural history, optimal management, and relationship to other disorders of fatty overgrowth are unclear. In this study, the clinical features, radiographic findings, histopathology, and postoperative results were analyzed in 13 patients with facial infiltrating lipomatosis.
Facial Palsy
The weakening of the facial muscles, resulting from temporary or permanent damage to the facial nerves.
There are different degrees of facial paralysis: sometimes only the lower half of the face is affected, sometimes one whole side of the face is affected and in some cases both sides of the face are affected.
Each side of the face has its own facial nerve, so damaging the left facial nerve will only affect the left side of the face, and vice versa. Each nerve starts at the brain and enters the face to the front of the ear where it then divides into five separate branches. These branches supply the muscles which are used for facial expression. Tears, saliva production and taste are also controlled by the facial nerve in different ways.
Fibrous Dysplasia
An uncommon bone disorder where fibrous tissue is developed in place of normal bones causing it deform or fracture. Most times fibrous dysplasia occurs in single site bone areas but can occur in multiple sites and bones.
Fibrous dysplasia is linked to a gene mutation present in certain cells that produce bone. The mutation results in the production of immature and irregular bone tissue. Most often the irregular bone tissue (lesion) is present at a single site on one bone. Less often multiple bones are affected, and there may be more than one lesion on multiple bones. A lesion usually stops growing sometime during puberty. However, lesions may grow again during pregnancy.
The gene mutation associated with fibrous dysplasia occurs after conception, in the early stages of fetal development. Therefore, the mutation isn’t inherited from your parents, and you can’t pass it on to your children.
Frontonasal Dysplasia
A result from an abnormal development of the head and face before birth. Patients with Frontonasal Dysplasia usually have at least two of the following features: wide spaced eyes, a broad nose, a cleft in one or both sides of the nose, lack of the nasal tip, cleft palate, and incomplete formation of the frontal skull with skin covering the head where bone should be.
There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.
Hallermann-Streiff Syndrome
An abnormal congenital condition that impacts the skull and facial bones. Results include Craniofacial, Eye and Dental abnormalities.
Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities.
Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth ]Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present.
Hemangioma
A birthmark that can appear on any part of the body but is commonly found on the face, chest, scalp and back. Appearing during the first several months after birth, hemangiomas appear as a rubbery nodule of extra blood vessels.
It starts out as a flat red mark anywhere on the body, most often on the face, scalp, chest or back. Usually a child has only one mark. Some children may have more than one, particularly if they’re part of a multiple birth.
During your child’s first year, the red mark grows rapidly and becomes a spongy mass that protrudes from the skin. The hemangioma then enters a rest phase and, eventually, it begins to slowly disappear.
About half of all hemangiomas resolve by age 5, and nearly all hemangiomas are resolved by age 10. Although the color of the birthmark also fades, faint — but permanent — discoloration of the skin or residual extra skin may remains.
Hemifacial Microsomia/Goldenhar Syndrome
A condition that is present at birth and usually affects the development of the eye, ear, and spine. Symptoms can include facial asymmetry, a partially formed ear or fully absent ear, benign growths of the eye and spinal abnormalities.
The cause is still unknown.Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face.
Microtia
A condition resulting in a small, abnormally shaped or absent external ear. This can occur bilaterally but is commonly found unilaterally. Some patients have slightly deformed ears while others have completely absent ears, which also results in no evidence of an ear canal or a blind canal, also known as aural atresia.
Patients who lack the ear canal are not just missing a “hole” in the skin; they also have no canal through in the skull. In other words, the outer ear is completely separated from the middle ear by bone. No wonder the sound can’t get through! These patients also have structural abnormalities of the middle ear itself with absence of the eardrum and incomplete formation of the tiny middle ear bones, which normally allow conduction of hearing through the middle ear. Microtia and aural atresia tend to occur together because the outer ear and the middle ear develop together in fetal life. The inner ear, on the other hand, develops with the brain, and is almost always normal in patients with microtia and aural atresia.
Miller Syndrome
A rare condition that mainly affects the development of the face and limbs. Patients with miller syndrome are born with underdeveloped cheekbones and a very small lower jaw. They usually have a cleft lift and/or palate as well.
People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small, cup-shaped ears, and some have hearing loss caused by defects in the middle ear (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person’s intelligence, although speech development may be delayed due to hearing impairment.
Moebius Syndrome
A rare neurological condition which affects facial expression and the movement of the eyes. Paralysis of the facial muscles is the most common features of this condition. Patients with Moebius usually are born with a small mouth and unusually fake tongue.
Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common.
Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes.
Muenke Syndrome
Characterized by the premature closure of the coronal suture of the skull during development. The premature fusion of of skull bones along the coronal suture can affect the growth line that goes over the head from ear to ear.
Many people with Muenke syndrome have a 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 may be affected as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an enlarged head (macrocephaly). Some people with Muenke syndrome have mild abnormalities of the hands or feet. Hearing loss is present in about one third of patients.While most people with this condition have normal intellect, developmental delay and learning disabilities have been reported.
The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the FGFR3 gene mutation do not have any of the characteristic features of the disorder
Nager Syndrome
A rare condition that affects the face, arms and hands, patients of nager syndrome are often born with underdeveloped cheekbones and a very small lower jaw. Nager Syndrome also affects the eyes and patients often have eyes that slant downward, no eyelashes and a notch in the lower eyelids.
Since Nager Syndrome patients often have eyes that slant downward (downslanting palpebral fissures), no eyelashes, and a notch in the lower eyelids called an eyelid coloboma, many affected individuals have small or unusually formed ears, and about 60 percent have hearing loss caused by defects in the middle ear (conductive hearing loss). Nager syndrome does not affect a person’s intelligence, although speech development may be delayed due to hearing impairment.
Pfeiffer Syndrome
A genetic disorder characterized by the premature fusion of certain skull bones. This fusion can affect the shape and size of the head, as well as the hands and feet. As a result of these abnormalities many patients suffer from hearing loss.
Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
Pierre Robin Sequence
A set of abnormalities affecting the head and face, particularly the lower jaw. Patients face conditions like having a small lower jaw that affects their airways due to their tongue being placed further back in their mouth.
This condition is described as a “sequence” because one of its features, underdevelopment of the lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue, and the abnormally positioned tongue can block the airways. In addition, micrognathia and glossoptosis affect formation of the palate during development before birth, which often leads to cleft palate.
The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result, some affected babies have an inability to grow and gain weight at the expected rate (failure to thrive). In some children with Pierre Robin sequence, growth of the mandible catches up, and as adults these individuals have normal-sized chins.
Saethre-Chotzen
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, unusually shaped ears.
The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild abnormalities of the hands and feet, such as fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects.
Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a mild variant of Saethre-Chotzen syndrome
Treacher Collins
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant’s airway, causing potentially life-threatening respiratory problems.
People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.