National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Crouzon Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Crouzon Syndrome with Acanthosis Nigricans
- Pfeiffer Syndrome, Types I, II, and III
- Apert Syndrome
- Apert-Crouzon Disease (Vogt Cephalodactyly)
- Saethre-Chotzen Syndrome
- Jackson-Weiss Syndrome
- Acrocephalopolysyndactyly (General)
- Associated Congenital Disorders (General)
Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures) close prematurely (craniosynostosis). In addition, facial abnormalities typically include unusual bulging or protrusion of the eyeballs (proptosis) due to shallow eye cavities (orbits); outward deviation of one of the eyes (divergent strabismus or exotropia); widely spaced eyes (ocular hypertelorism); and a small, underdeveloped upper jaw (hypoplastic maxilla), with protrusion of the lower jaw (relative mandibular prognathism).
In some instances, Crouzon syndrome is inherited as an autosomal dominant trait. In other cases, affected individuals have no family history of the disease. In such instances, Crouzon syndrome is thought to result from new genetic changes (mutations) that occur randomly for unknown reasons (sporadically).
Crouzon syndrome, also known as craniofacial dysostosis, is primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial abnormalities. Cranial and facial malformations may vary, ranging from mild to potentially severe, including among members of the same family (kindred).
For example, the degree of cranial malformation may be variable, depending on the specific cranial sutures involved as well as the order and rate of progression. In most affected individuals, there is premature fusion of the sutures (i.e., coronal and sagittal sutures) between bones forming the forehead (frontal bone) and the upper sides of the skull (parietal bones). In addition, the suture between the back and the sides of the skull (i.e., lambdoidal suture) or other sutures may be involved in some cases. In most individuals with Crouzon syndrome, early sutural fusion causes the head to appear unusually short and broad (brachycephaly). In other cases, the head may appear long and narrow (scaphocephaly) or triangular in shape (trigonocephaly). Rarely, premature closure of multiple sutures (known as Kleeblattschadel type craniosynostosis) causes the skull to be abnormally divided into three lobes (cloverleaf skull deformity). In those with Crouzon syndrome, craniosynostosis typically begins during the first year of life and progresses until approximately age two to three. However, craniosynostosis may sometimes be apparent at birth or, more rarely, may not be noted during childhood.
In most individuals with Crouzon syndrome, there is unusual shallowness of the orbits or the bony cavities of the skull that accommodate the eyeballs. As a result, the eyeballs appear to protrude or bulge forward (proptosis). Due to such abnormalities, affected individuals are unusually susceptible to developing inflammation of the front, transparent regions of the eyes (i.e., exposure keratitis) as well as the membranes that line the inner surfaces of the eyelids and cover the whites of the eyes (exposure conjunctivitis). Additional eye (ocular) abnormalities are often present, including widely spaced eyes (ocular hypertelorism) and deviation of one eye away from the other (divergent strabismus or exotropia). Less commonly, Crouzon syndrome may be associated with other ocular defects, such as degeneration of the nerves that transmit impulses from the retinas to the brain (optic atrophy); rapid, rhythmic, involuntary eye movements (nystagmus); clouding of the lenses of the eyes (cataracts); and/or partial absence of tissue from the colored regions of the eyes (iris coloboma). Approximately half of affected individuals have poor vision and about seven percent may be affected by blindness. The degree of visual impairment depends upon the severity and combination of eye abnormalities present.
Crouzon syndrome is also often associated with additional craniofacial abnormalities. Affected individuals often have a prominent forehead; a curved, "parrot-beaked" nose; unusually flat or underdeveloped midfacial regions (midface hypoplasia); and a short upper lip. In addition, many with the disorder have a small, underdeveloped upper jaw (hypoplastic maxilla), with protrusion of the lower jaw (relative mandibular prognathism). Clefting of the lip and/or palate (incomplete closure of the palate or an abnormal groove in the upper lip) occur rarely, but typical dental problems include a highly arched narrow palate with crowded teeth, and front teeth that don't touch (anterior open bite).
Many individuals with Crouzon syndrome also have various dental abnormalities due to underdevelopment of the upper jaw (maxillary hypoplasia). These may include improper contact of the teeth of the upper jaw with those of the lower jaw (malocclusion) and crowding of the front teeth of the upper jaw.
Crouzon syndrome may also be associated with certain neurological abnormalities. For example, one study reported that approximately 30 percent of affected individuals frequently had headaches and about 12 percent experienced episodes of uncontrolled electrical activity in the brain (seizures). Mental retardation was present in approximately three percent. In addition, although rare, craniosynostosis may be associated with progressive hydrocephalus in some individuals with Crouzon syndrome. Hydrocephalus is characterized by impaired flow or absorption of the fluid (i.e., cerebrospinal fluid [CSF]) that circulates through cavities (ventricles) of the brain and the spinal canal, potentially leading to increasing fluid pressure within the skull (intracranial pressure) and the brain and other associated findings.
In some cases, Crouzon syndrome may be associated with additional physical abnormalities. For example, many affected individuals have hearing impairment due to improper conduction of sound from the outer or middle ear to the inner ear (conductive hearing loss), abnormalities of the nerves (i.e., acoustic nerves) that transmit sound impulses to the brain (sensorineural hearing loss), or both (mixed hearing loss). Some individuals with Crouzon syndrome also have abnormal deviation of the partition that separates the nostrils (deviated nasal septum) and/or unusual smallness of the air-filled cavities that open into the nose (paranasal sinuses). In some cases, obstruction of the nasal cavities and the upper region of the throat (nasopharyngeal obstruction) may cause respiratory difficulties during infancy. In addition, for some individuals, upper airway obstruction may result in the need to breathe through the mouth ("obligatory mouth breathing").
According to several reports, Crouzon syndrome may also be associated with certain musculoskeletal abnormalities. These may include abnormal union or fusion of certain bones of the spinal column within the neck (cervical vertebrae [e.g., C2 and C3]); partial dislocation (subluxation) of the upper end (head) of the bone on the thumb side of the forearm (radius); and/or stiffness of the elbows.
In some affected individuals, Crouzon syndrome is inherited as an autosomal dominant trait with variable expression. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy.
Other individuals with Crouzon syndrome may have no family history of the disease. Such cases are thought to result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). According to reports in the medical literature, sporadic cases may be associated with increased age of the father (advanced paternal age of greater than 34 years).
In most cases, individuals with a mutated gene for Crouzon syndrome will manifest symptoms and findings associated with the disorder (high penetrance). However, such characteristics may vary greatly in range and severity from case to case (variable expressivity).
In some familial and sporadic cases, Crouzon syndrome has been shown to result from certain mutations in a gene known as fibroblast growth factor receptor-2 (FGFR2). The gene has been mapped to the long arm (q) of chromosome 10 (10q26). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as "p" and a long arm identified by the letter "q". Chromosomes are further subdivided into bands that are numbered. For example, "10q26" refers to band 26 on the long arm of chromosome 10.
The FGFR2 gene regulates the production of a protein known as a fibroblast growth factor receptor (FGFR). Genetic mutations that disrupt the functioning of such proteins may result in abnormalities of bone growth and development, ultimately leading to certain malformations of the craniofacial area. Evidence indicates that different mutations in the FGFR2 gene may cause a number of other related disorders, including some cases of Apert syndrome and Jackson-Weiss syndrome. In addition, according to some reports, certain FGFR2 mutations may result in Crouzon syndrome in some families (kindreds), whereas the same mutations cause Pfeiffer syndrome in other kindreds. The implications of such findings are not completely understood. (For further information on these disorders, please see the "Related Disorders" section of this report below.)
Crouzon syndrome appears to affect males and females in relatively equal numbers. The disorder was originally described in 1912 (Crouzon O) in a mother and daughter.
Crouzon syndrome has been estimated to occur in approximately one in 25,000 live births. However, due to the variability of associated symptoms (variable expressivity), Crouzon syndrome may be underdiagnosed; therefore, it is difficult to determine the true frequency of the disorder in the general population.
Symptoms of the following disorders may be similar to those of Crouzon syndrome. Comparisons may be useful for a differential diagnosis:
Crouzon syndrome with acanthosis nigricans is a rare genetic disorder in which the classic symptoms of Crouzon syndrome occur in association with a skin disease (i.e., acanthosis nigricans) that is characterized by abnormal, "velvety" thickening and increased coloration (hyperpigmentation) of the skin. Such skin abnormalities are apparent by puberty and typically affect skin of the neck, abdomen, chest, breasts, eyelids, and nostrils; under the arms (axillae); and around the mouth. Reports suggest that individuals affected by Crouzon syndrome with acanthosis nigricans often have progressive hydrocephalus and choanal atresia, both of which are unusual in those with Crouzon syndrome alone.
Progressive hydrocephalus is characterized by impaired flow or absorption of cerebrospinal fluid, potentially leading to increasing fluid pressure within the skull (intracranial pressure) and the brain and other associated findings. Choanal atresia is a condition in which bony or membranous tissue blocks the passageway between the nose and the throat. Some individuals with Crouzon syndrome and acanthosis nigricans may also have benign (noncancerous) tumors of the jaw (i.e., cementomas) and vertebral abnormalities associated with progressive narrowing of the spinal canal (spinal stenosis). Therefore, some researchers suggest that the disorder should be referred to as "Crouzonodermoskeletal syndrome." Reports indicate that Crouzon syndrome with acanthosis nigricans primarily affects females (although this is not the case with Crouzon syndrome or acanthosis nigricans alone). In some cases, Crouzon syndrome with acanthosis nigricans results from new genetic changes (mutations) that occur randomly for unknown reasons (sporadically); in other instances, the disorder is familial with autosomal dominant inheritance. Crouzon syndrome with acanthosis nigricans is caused by mutations in a gene known as fibroblast growth factor receptor-3 (FGFR3) that has been mapped to the short arm (p) of chromosome 4 (4p16.3). (For further information, choose "acanthosis nigricans" as your search term in the Rare Disease Database.)
Pfeiffer syndrome is a rare genetic disorder that is primarily characterized by craniofacial abnormalities and distinctive malformations of the fingers and toes (digits). The disorder, which is also known as acrocephalosyndactyly type V, is generally considered to be the same disease entity as Noack syndrome (acrocephalopolysyndactyly type I). Researchers have recognized three subtypes of Pfeiffer syndrome: i.e., Pfeiffer syndrome types I, II, and III. Major findings that may be associated with all subtypes include premature fusion of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis); abnormally broad, deviating thumbs and great toes; and webbing or fusion (syndactyly) of certain fingers and toes. Pfeiffer syndrome may be caused by new (sporadic) genetic mutations or may be inherited as an autosomal dominant trait. Researchers have shown that the disorder may result from certain mutations in the fibroblast growth factor receptor-2 (FGFR2) gene or another gene known as fibroblast growth factor receptor-1 (FGFR1). It is not yet cIear whether there is a specific relationship between mutation of a particular disease gene responsible for Pfeiffer syndrome and the subtype of the disorder that results.
In infants with the classic form of Pfeiffer syndrome, craniosynostosis causes the head to appear short and unusually pointed at the top (turribrachycephaly). Additional craniofacial abnormalities may include a high, full forehead; underdeveloped midfacial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), with a prominent lower jaw; and dental abnormalities. Intelligence is usually normal. Pfeiffer syndrome type I may be due to new genetic mutations or be inherited as an autosomal dominant trait.
In infants with Pfeiffer syndrome type II, premature closure of multiple cranial sutures (Kleeblattschadel type craniosynostosis) causes the skull to be abnormally divided into three lobes (cloverleaf skull deformity). Additional physical features may include severe protrusion of the eyes (proptosis); abnormal fixation and lack of mobility (ankylosis) of the elbow joints; malformations of internal organs in the abdominal area (visceral anomalies); progressive hydrocephalus; and impaired mental development and neurological problems due to severe involvement of the brain. Pfeiffer syndrome type II appears to be due to new genetic mutations. Certain mutations in the fibroblast growth factor receptor-2 (FGFR2) gene have been implicated in some cases of Pfeiffer syndrome type II.
Individuals with Pfeiffer syndrome type III have symptoms and findings similar to those seen in type II, with the exception of the cloverleaf skull deformity. Additional characteristics may include a shortened base of the skull; the abnormal presence of certain teeth at birth (natal teeth); severe protrusion of the eyes (proptosis) due to abnormal shallowness of the eye cavities; and/or various malformations of internal organs in the abdominal area (visceral anomalies). As with type II, infants with type III often experience impaired mental development and neurological problems due to severe involvement of the brain. Pfeiffer syndrome type III appears to result from new genetic mutations. (For further information on Pfeiffer syndrome types I, II, or III, choose "Pfeiffer" as your search term in the Rare Disease Database.)
Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by distinctive craniofacial malformations and defects of the hands and feet. In some instances, mental retardation may also be present. In infants with Apert syndrome, premature closure of certain cranial sutures (craniosynostosis) causes the head to appear abnormally pointed at the top (acrocephaly). Affected infants also have characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (proptosis), underdevelopment of midfacial regions (midface hypoplasia), and a narrow roof of the mouth (palate). Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly). Apert syndrome usually results from new (sporadic) genetic mutations. In other cases, the disorder may be inherited as an autosomal dominant trait. Sporadic and familial cases may result from certain mutations of the fibroblast growth factor receptor-2 (FGFR2) gene. (For further information, choose "Apert" as your search term in the Rare Disease Database.)
Apert-Crouzon disease (acrocephalosyndactyly type II) is also known as Vogt cephalodactyly. This rare genetic disorder is characterized by a combination of the hand and foot malformations present in Apert syndrome and the facial abnormalities seen in Crouzon syndrome. Such facial characteristics are thought to result from severe underdevelopment of the upper jaw bone (hypoplastic maxilla). In individuals with Apert-Crouzon disease, webbing or fusion (syndactyly) of the digits may not be as severe as that seen in Apert syndrome. For example, the syndactyly typically does not involve the thumbs or fifth fingers ("pinkies"). The disorder may also be characterized by mental retardation. Apert-Crouzon disease appears to result from new genetic mutations.
Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type III, is a rare genetic disorder characterized by premature closure of certain cranial sutures (craniosynostosis). In some cases, the cranial sutures may fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). Additional craniofacial malformations may include underdevelopment of midfacial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism) with unusually shallow orbits; abnormal deviation of one eye in relation to the other (strabismus); a thin, pointed nose; and incomplete closure of the roof of the mouth (cleft palate). Affected individuals may also have additional physical abnormalities, such as partial fusion of soft tissues (cutaneous syndactyly) of certain digits, particularly the second and third fingers; "finger-like" thumbs; limited extension of the elbows; and/or, in some cases, heart (cardiac) defects, kidney (renal) malformations, or other findings. Although intelligence is usually normal, mild to moderate mental retardation has been reported. Saethre-Chotzen syndrome is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Saethre Chotzen" as your search term in the Rare Disease Database.)
Jackson-Weiss syndrome is a rare genetic disorder that is primarily characterized by craniosynostosis; unusually flat, underdeveloped midfacial regions (midface hypoplasia); broad, deviating great toes; and webbing or fusion (syndactyly) of the second and third toes. Additional craniofacial abnormalities may include a relatively flat back region of the head (occiput), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), downwardly slanting eyelid folds (palpebral fissures), and abnormal deviation of one eye in relation to the other (strabismus). The range and severity of symptoms and findings may vary greatly from case to case, including in members of the same family. Jackson-Weiss syndrome may result from sporadic genetic mutations or be inherited as an autosomal dominant trait. According to reports in the literature, certain mutations of the fibroblast growth factor receptor-2 (FGFR2) gene may cause Jackson-Weiss syndrome in some sporadic and familial cases. (For more information on this disorder, choose "Jackson Weiss" as your search term in the Rare Disease Database.)
The acrocephalopolysyndactyly (ACPS) disorders are a group of rare genetic disorders including Noack syndrome (type I), which is generally accepted to be the same condition as Pfeiffer syndrome; Carpenter syndrome (type II); Sakati syndrome (type III); and Goodman syndrome (type IV). All are characterized by craniosynostosis causing the top of the head to appear pointed (acrocephaly); extra fingers or toes (polydactyly); and/or webbing or fusion of certain fingers or toes (syndactyly). (For further information on these disorders, choose "Pfeiffer", "Carpenter", "Sakati", "Goodman" or "acrocephalopolysyndactyly" as your search term in the Rare Disease Database.)
Additional congenital disorders may be characterized by various forms of craniosynostosis, additional craniofacial abnormalities, and other symptoms and findings similar to those potentially associated with Crouzon syndrome. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)
Crouzon syndrome is usually diagnosed at birth or during infancy based upon a thorough clinical evaluation, identification of characteristic physical findings, and a variety of specialized tests. Such testing may include advanced imaging techniques, such as computerized tomography (CT) scanning or magnetic resonance imaging (MRI), or other studies to help detect or characterize certain abnormalities that may be associated with the disorder (e.g., craniosynostosis, other skeletal abnormalities, etc.). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of internal structures. During MRI, a magnetic field and radio waves create detailed cross-sectional images of certain organs and tissues.
The treatment of Crouzon syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals. These may include pediatricians; surgeons; physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); physicians who specialize in disorders of the ears, nose, and throat (otolaryngologists); hearing specialists; physicians who diagnose and treat neurological disorders (neurologists); eye specialists (ophthalmologists); and/or other health care professionals.
Specific therapies for Crouzon syndrome are symptomatic and supportive. Craniosynostosis and, in some cases, associated hydrocephalus may result in abnormally increased pressure within the skull (intracranial pressure) and on the brain. Therefore, early surgery may be advised to correct craniosynostosis and, for those with hydrocephalus, to insert a tube (shunt) to drain excess cerebrospinal fluid (CSF) away from the brain and into another part of the body where the CSF may be absorbed. Corrective and reconstructive surgery may also be performed to help correct certain craniofacial abnormalities and associated findings. In fact, many affected individuals undergo combined braces (orthodontic) and surgery (orthognatic) to reposition the upper jaw (maxilla) more forward and permit the teeth to fit together properly. In addition, in some cases in which obstruction of the upper airways causes respiratory difficulties, medical treatment or surgical intervention may be required. The specific surgical procedures performed will depend upon the severity and location of anatomical abnormalities, their associated symptoms, and other factors.
Early intervention may be important to ensure that children with Crouzon syndrome reach their potential. Special services that may be beneficial to affected children include special social support, speech therapy, and/or other medical, social, or vocational services.
Genetic counseling will be of benefit for affected individuals and their families. Diagnostic evaluations (including clinical examination and x-ray studies) are also important for family members of individuals with the disorder to detect any symptoms and physical characteristics that may be associated with Crouzon syndrome. Other treatment for this disorder is symptomatic and supportive.
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For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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FROM THE INTERNET
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eMedicine - Crouzon Syndrome-Author: Harold Chen, MD, MS, FAAP, FACMG,
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