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NORD is very grateful to Soledad Kleppe, MD, Associate Professor, CEMIC, Department of Genetics, Buenos Aires, Argentina, for assistance in the preparation of this report.
Carpenter syndrome belongs to a group of rare genetic disorders known as "acrocephalopolysyndactyly" (ACPS) disorders. All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). Carpenter syndrome is also known as ACPS type II.
Carpenter syndrome is typically evident at or shortly after birth. Due to craniosynostosis, the top of the head may appear unusually conical (acrocephaly) or the head may seem short and broad (brachycephaly). In addition, the cranial sutures often fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). Additional malformations of the skull and facial (craniofacial) region may include downslanting eyelid folds (palpebral fissures); a flat nasal bridge; malformed (dysplastic), low-set ears; and a small, underdeveloped (hypoplastic) upper and/or lower jaw (maxilla and/or mandible).
Individuals with Carpenter syndrome may also have unusually short fingers and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly, additional fingers (polydactyly). In some instances, additional physical abnormalities are present, such as short stature, structural heart malformations (congenital heart defects), mild to moderate obesity, weakening in the abdominal wall near the navel through which the intestine may protrude (umbilical hernia), or failure of the testes to descend into the scrotum (cryptorchidism) in affected males. In addition, many individuals with the disorder are affected by mild to moderate intellectual disability. However, intelligence is normal in some instances. Carpenter syndrome is usually inherited as an autosomal recessive condition.
Primary findings associated with Carpenter syndrome include premature closure of the fibrous joints (cranial sutures) between particular bones in the skull (craniosynostosis), characteristic facial abnormalities, and/or malformations of the fingers and toes (digits). However, associated features may vary in range and severity from case to case, including among affected members of the same family (kindred).
In almost all reported cases, craniosynostosis has been present. The severity and degree of skull (cranial) malformation may be variable, depending on the cranial sutures involved as well as the rate and order of progression. In many affected infants and children, craniosynostosis initially involves the sutures between bones forming the upper sides and the back of the skull (i.e., sagittal and lambdoidal sutures); this is often followed by early closure of the sutures (i.e., coronal sutures) between bones forming the forehead (frontal bone) and the upper sides of the cranium (parietal bones). Such abnormalities may cause the upper portion of the skull or "skullcap" (calvaria) to appear variable in shape and, in some cases, may result in severe malformation. In many cases, the top of the head appears pointed (acrocephaly) or the head seems unusually short and broad (brachycephaly). In addition, involvement of certain sutures on one side of the skull (e.g., unilateral involvement of lambdoidal and/or coronal sutures) may cause the head and face to appear dissimilar from one side to the other (cranial asymmetry). Rarely, due to involvement of multiple cranial sutures (Kleeblattschadel type craniosynostosis), the skull appears to be abnormally divided into three lobes (cloverleaf skull deformity). In some instances, early closure of certain cranial sutures may lead to abnormally increased pressure within the skull (intracranial pressure).
Many infants and children with Carpenter syndrome have additional malformations of the skull and facial (craniofacial) area, resulting in a distinctive facial appearance. Such abnormalities include unusually small, underdeveloped ridges above the eyes (hypoplastic supraorbital ridges); downslanting eyelid folds (palpebral fissures); vertical skin folds (epicanthal folds) that may cover the eyes' inner corners; and broad cheeks. Additional craniofacial malformations are also often present, such as a flat nasal bridge; an unusually narrow or highly arched roof of the mouth (palate); an underdeveloped lower and/or upper jaw (hypoplastic mandible and/or maxilla); relatively low-set, malformed ears; and a short neck. Carpenter syndrome may also be associated with eye (ocular) abnormalities. These may include smallness, improper development, and/or clouding of the front, normally transparent regions of the eyes (corneas); degeneration of the nerves that transmit impulses from the nerve-rich innermost membranes of the eyes (retinas) to the brain (optic atrophy); and/or other ocular defects.
Carpenter syndrome is also typically characterized by distinctive malformations of the fingers and toes (digits). Affected individuals have unusually short fingers and toes (brachydactyly) due to shortness or absence of the middle bones of the digits (middle phalanges). There may be partial fusion of the soft tissues (cutaneous syndactyly) between certain fingers, particularly the third and fourth digits. Some individuals may also have partial fusion of soft tissues between certain toes.
Carpenter syndrome is also commonly associated with more than the normal number of digits (polydactyly). In most cases, affected individuals have additional (supernumerary) great toes (halluces) or second toes (preaxial polydactyly) that may also be webbed or partially fused. Less commonly, there may be additional fingers, such as duplication of the fifth fingers or "pinkies" (postaxial polydactyly). Those with the disorder may also have abnormal flexion (camptodactyly) and deviation (clinodactyly) of certain fingers and/or a deformity in which the heels of the feet are turned inward (talipes varus). Additional abnormalities may also be present, including abnormal skin ridge patterns of the hands; deformity of the hip (coxa valga); it also may be present a malformation in which the knees are abnormally close together and the ankles are unusually far apart (genu valgum); and/or an abnormal curvature of the spine (kyphoscoliosis).
According to reports in the medical literature, approximately one-third to one-half of individuals with Carpenter syndrome may also have structural heart malformations at birth (congenital heart defects). Such defects commonly include an abnormal opening in the fibrous partition (septum) that separates the lower or upper chambers of the heart (ventricular or atrial septal defects). In some cases, there may be an abnormal opening (i.e., patent ductus arteriosus) between the artery that transports oxygen-rich blood to most of the body (aorta) and the pulmonary artery, which carries oxygen-deficient blood to the lungs. Additional congenital heart defects may include abnormal narrowing of the opening between the pulmonary artery and the lower right chamber of the heart (i.e., pulmonary stenosis) or a deformity known as tetralogy of Fallot. The latter describes a combination of heart defects, including pulmonary stenosis; an abnormal opening in the partition between the lower chambers of the heart (ventricular septal defect); displacement of the aorta, enabling oxygen-deficient blood to flow from the right ventricle to the aorta; and enlargement of the right ventricle (hypertrophy). In some instances, other congenital heart defects may also be present.
Carpenter syndrome may also be associated with additional physical features. Such abnormalities may include short stature; mild to moderate obesity of the face, neck, trunk, forearms, and thighs; and/or, in some cases, hearing loss. Such hearing impairment may be 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). Additional findings may include failure of the testes to descend into the scrotum (cryptorchidism); deficient functioning of the testes (hypogonadism); and/or protrusion (herniation) of portions of the intestine through an abnormal opening in the abdominal wall into the inguinal canal or the passageway through which the testes normally descend into the scrotum. In addition, in some cases, there may be bulging of the intestine through an abdominal wall defect near the navel (umbilical hernia) or a defect in the abdominal wall from which loops of the intestine and other abdominal organs may protrude, covered by a thin, membrane-like sac (omphalocele).
Many individuals with Carpenter syndrome are affected by mild intellectual disability. However, normal intelligence has also been reported. It has also been reported some changes in the brain images, like enlargement of the spaces that surround the brain (ventriculomegaly).
Carpenter syndrome is usually inherited as an autosomal recessive disorder. 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.
Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes numbered from 1 through 22 are called autosomes and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 6p12.1" refers to band 12.1 on the short arm of chromosome 6. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Carpenter syndrome is associated with abnormalities (mutations) in the RAB23 gene located on the short arm of the chromosome 6 (6p12.1) and different mutations in the gene have been reported in the studied families. It is possible to read (sequence) this gene in some research laboratories to confirm the diagnosis if it is not clear clinically. Affected individuals in the same family with the same mutations may have different symptoms and variable severity (intrafamilial variability). Mutations in the RAB23 gene are not present in all affected individuals.
Carpenter syndrome appears to affect males and females in relatively equal numbers. The disorder was originally described in the medical literature in 1901 (Carpenter G) in two sisters and one brother. However, Carpenter syndrome was not recognized as a distinct disease entity until 1966 (Temtamy SA). More than 60 cases of the disorder have been recorded. In 10 patients that had sequence analysis for the disease causing gene, homozygosity (two copies) for the same nonsense mutation, (a change in the DNA that causes a change in the protein) was found. This is indicative of a founder effect in patients of northern European descent which means that a high prevalence of a genetic disorder in an isolated or inbred population is due to the fact that many members of the population are derived from a common ancestor who had the disease causing mutation.
Symptoms of the following disorders may be similar to those of Carpenter syndrome. Comparisons may be useful for a differential diagnosis:
Pfeiffer syndrome is a rare genetic disorder characterized by abnormalities of the skull and facial (craniofacial) region and distinctive malformations of the fingers and toes (digits). Also known as acrocephalosyndactyly (ACS) type V, Pfeiffer syndrome is generally accepted to be the same disease entity as Noack syndrome (acrocephalopolysyndactyly [ACPS] type I). Researchers have described three major subtypes of Pfeiffer syndrome: i.e., Pfeiffer syndrome types I, II, and III. Findings that may be associated with all subtypes include premature closure of the fibrous joints between particular bones of the skull (craniosynostosis); unusually broad, deviating thumbs and great toes; and webbing or fusion (syndactyly) of certain fingers and toes. Pfeiffer syndrome may result from new (sporadic) genetic changes (mutations) or be inherited as an autosomal dominant trait. Evidence suggests that the disorder may be caused by specific mutations in a gene known as fibroblast growth factor receptor-2 (FGFR2) or another gene called fibroblast growth factor receptor-1 (FGFR1). It remains unclear 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 the classic form of Pfeiffer syndrome (type I), craniosynostosis causes the head to appear short and unusually pointed at the top (turribrachycephaly). Additional craniofacial malformations often include a high, full forehead; unusually flat, underdeveloped midfacial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); a small upper jaw (hypoplastic maxilla); a prominent lower jaw; and dental abnormalities. Intelligence is typically normal. Pfeiffer syndrome type I may result from spontaneous genetic mutations or be inherited as an autosomal dominant trait.
In Pfeiffer syndrome type II, early closure of multiple cranial sutures (Kleeblattschadel type craniosynostosis) causes the skull to be abnormally divided into three lobes (cloverleaf skull deformity). Additional physical malformations may include severe protrusion of the eyes (proptosis); abnormal fixation and restricted movement of the elbow joints; malformations of internal organs in the abdominal area (visceral anomalies); and progressive hydrocephalus. The latter is a condition characterized by impaired flow or absorption of the fluid that circulates through cavities (ventricles) of the brain and the spinal canal (cerebrospinal fluid [CSF]), potentially leading to increasing fluid pressure in the brain and other associated findings. Infants with Pfeiffer syndrome type II often experience impaired mental development and neurological problems due to severe involvement of the brain. Pfeiffer syndrome type II appears to be caused by new genetic mutations that occur spontaneously. Certain mutations in the FGFR2 gene have been implicated in some instances of Pfeiffer syndrome type II.
Pfeiffer syndrome type III is characterized by symptoms similar to those associated with type II, with the exception of the cloverleaf skull deformity. Additional abnormalities may include a shortened base of the skull; severe protrusion of the eyes (proptosis) due to shallowness of the eye cavities (orbits); and/or various malformations of internal organs in the abdominal area. As seen with type II, infants with type III often have impaired mental development and neurological problems due to severe brain involvement. Pfeiffer syndrome type III is thought to result from new (sporadic) genetic mutations. (For further information on Pfeiffer syndrome types I, II, or III, choose "Pfeiffer" as your search term in the Rare Disease Database.)
Sakati syndrome, also known as acrocephalopolysyndactyly (ACPS) type III, is a rare genetic disorder characterized by early closure of certain cranial sutures (craniosynostosis), causing the head to appear unusually pointed at the top (acrocephaly). Affected individuals may also have additional craniofacial malformations, such as a prominent forehead; an elongated, "beak-like" nose; protrusion of the eyes (proptosis) due to unusually shallow eye cavities; a small upper jaw (maxillary hypoplasia); crowding of the upper teeth; and malformed, low-set ears. The disorder may also be characterized by more than the normal number of fingers and toes (polydactyly); unusually short, broad hands; webbing or fusion of certain toes; short arms; and leg deformities. These may include bowed thigh bones (femurs); malformed, displaced calf bones (fibulas); and underdeveloped shin bones (hypoplastic tibias). Additional physical abnormalities may also be present, including congenital heart disease. Intelligence is usually normal. Sakati syndrome appears to result from new (sporadic) genetic mutations. (For further information, choose "Sakati" as your search term in the Rare Disease Database.)
Goodman syndrome (ACPS type IV) is a rare genetic disorder that is apparent at birth (congenital). Due to premature closure of certain cranial sutures, the head appears pointed at the top (acrocephaly). Additional craniofacial malformations may include a prominent nose; large, protruding ears; highly arched eyebrows; slightly slanted eyelid folds (palpebral fissures); and vertical skin folds (epicanthal folds) that may cover the eyes' inner corners. Goodman syndrome is also characterized by hand and foot malformations, including webbing or fusion of certain fingers or toes; more than the normal number of fingers (polydactyly); and abnormal flexion (camptodactyly) and deviation (clinodactyly) of the fifth fingers ("pinkies"). Additional features may include deviation of the forearm bone on the pinky side of the arm (ulna), a malformation in which the knees are abnormally close together and the ankles are unusually far apart (genu valgum), and congenital heart disease. Intelligence is typically normal. Goodman syndrome is inherited as an autosomal recessive trait. Many researchers suggest that Goodman syndrome is in fact a variant of Carpenter syndrome rather than a distinct disease entity. (For further information, choose "Goodman" as your search term in the Rare Disease Database.)
Summitt syndrome is a rare genetic disorder characterized by craniosynostosis, causing the top of the head to appear pointed (acrocephaly). Additional craniofacial abnormalities may include vertical skin folds (epicanthal folds) over the inner corners of the eyes, an unusually narrow roof of the mouth (palate), and delayed tooth eruption. Affected individuals may also have webbing or fusion (syndactyly) of certain fingers or toes, hip deformities (coxa valga), obesity, or other physical abnormalities. Intelligence is usually normal. The disorder is inherited as an autosomal recessive trait. Many researchers indicate that Summitt syndrome is also a variant of Carpenter syndrome rather than a distinct disorder entity. (For more information on this disorder, choose "Summitt" as your search term in the Rare Disease Database.)
The acrocephalosyndactyly (ACS) disorders are a group of rare genetic disorders including Apert syndrome (type I), Apert-Crouzon disease (type II), and Saethre-Chotzen syndrome (type III). All are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits). Such disorders may result from new (sporadic) genetic mutations or be transmitted as autosomal dominant traits. (For further information on these disorders, choose "Apert," "Apert Crouzon," "Saethre Chotzen," or "acrocephalosyndactyly" as your search term in the Rare Disease Database.)
Antley-Bixler syndrome is a rare genetic disorder characterized by distinctive craniofacial malformations and additional skeletal abnormalities. Affected individuals may have craniosynostosis, causing the head to appear unusually short and broad (brachycephaly); a prominent forehead; underdeveloped midfacial regions; a low nasal bridge; protruding eyes (proptosis); low-set, malformed ears; and other craniofacial abnormalities. Skeletal malformations may include fusion of certain adjacent bones of the arms (e.g., radiohumeral or radioulnar synostosis); long, thin fingers and toes (arachnodactyly); abnormal flexion of the digits (camptodactyly); and bowing of the thigh bones. In addition, due to permanent flexion or extension of certain joints in fixed postures (joint contractures), there may be limited movements of the fingers, wrists, ankles, knees, and/or hips. Antley-Bixler syndrome often appears to be inherited as an autosomal recessive trait. However, in other cases, the disorder is thought to result from spontaneous mutations of the FGFR2 gene. ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency (For further information, choose " Antley Bixler" as your search term in the Rare Disease Database.)
Additional congenital disorders may be characterized by various forms of craniosynostosis, additional craniofacial abnormalities, webbing or fusion (syndactyly) of the fingers or toes, more than the normal number of digits (polydactyly), and/or other symptoms and findings similar to those potentially associated with Carpenter syndrome. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)
A diagnosis of Carpenter syndrome may sometimes be suggested before birth (prenatally) based upon certain specialized tests, such as fetoscopy or ultrasound. During fetoscopy, a flexible viewing instrument (endoscope) may be introduced into the uterus through the abdominal wall to directly observe the fetus and, in some cases, to obtain fetal blood or tissue samples. Fetal ultrasonography is a noninvasive diagnostic procedure in which reflected sound waves create an image of the developing fetus.
In most cases, the diagnosis is made or confirmed at or shortly after birth based upon a thorough clinical examination, 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 diagnostic tests to help detect or characterize certain abnormalities that may be associated with the disorder (e.g., craniosynostosis, polysyndactyly, other skeletal abnormalities, hearing impairment, 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.
Molecular genetic testing to read (sequence) the RAB23 gene is available on a research basis and may help to confirm the diagnosis. Many different mutations in this gene have been reported in the studied families.
A thorough cardiac evaluation may also be recommended to detect any heart abnormalities that may be associated with the disorder. Such evaluation may include a through clinical examination, during which heart and lung sounds are evaluated through use of a stethoscope, and specialized tests that enable physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiography [EKG]), echocardiography, cardiac catheterization).
The treatment of Carpenter 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, such as pediatricians; surgeons; physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); physicians who specialize in heart disease (cardiologists); physicians who diagnose and treat neurological disorders (neurologists); hearing specialists; and/or other health care professionals.
Specific therapies for individuals with Carpenter syndrome are symptomatic and supportive. Because craniosynostosis may sometimes result in abnormally increased pressure within the skull (intracranial pressure) and on the brain, early surgery may be advised to help prevent or correct premature closure of cranial sutures. Some reports suggest that early surgical intervention may help to prevent intellectual disability in some instances. However, intellectual disability has occurred in some individuals with Carpenter syndrome despite early surgical correction of craniosynostosis. In addition, normal intelligence has been present in some without such surgical intervention.
In some instances, corrective and reconstructive surgery may also be recommended to help correct additional craniofacial malformations, polydactyly and syndactyly, other skeletal defects, or other physical abnormalities potentially associated with the disorder. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. The surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.
For some individuals with hearing impairment, hearing aids may be beneficial. Appropriate use of hearing aids, other supportive techniques, and/or speech therapy may help to prevent or improve speech problems that may occur in some individuals with the disorder.
Early intervention may be important to ensure that children with Carpenter syndrome reach their potential. Special services that may be beneficial to affected children include special education, physical therapy, and/or other medical, social, or vocational services.
Genetic counseling is recommended for affected individuals and their families. Diagnostic evaluations are also important for family members of individuals with the disorder to detect any symptoms and physical characteristics that may be associated with Carpenter syndrome. Other treatment for this disorder is symptomatic and supportive.
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Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 201000; 10/5/07. Available at: http://www.ncbi.nlm.nih.gov/sites/entrez?itool=genetests_disease_docsum&Cmd=Link&LinkName=genetests_omim&IdsFromResult=24548399
Report last updated: 2010/11/03 00:00:00 GMT+0