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Congenital Contractural Arachnodactyly

Synonyms: Beals Syndrome, Beals-Hecht Syndrome
, PhD
Munroe Meyer Institute
University of Nebraska Medical Center
Omaha, Nebraska

Initial Posting: ; Last Update: February 23, 2012.


Clinical characteristics.

Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers and toes (arachnodactyly). Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth. The proximal interphalangeal joints also have flexion contractures (i.e., camptodactyly), as do the toes. Hip contractures, adducted thumbs, and clubfoot may occur. The majority of affected individuals have muscular hypoplasia. Contractures usually improve with time. Kyphosis/scoliosis is present in about half of all affected individuals. It begins as early as infancy, is progressive, and causes the greatest morbidity in CCA. Dilatation of the aorta is occasionally present. Infants have been observed with a severe/lethal form characterized by multiple cardiovascular and gastrointestinal anomalies in addition to the typical skeletal findings.


CCA is diagnosed on the basis of clinical findings. Pathogenic variants in FBN2 (encoding the extracellular matrix microfibril fibrillin 2) are causative.


Treatment of manifestations: Physical therapy for joint contractures beginning in childhood to increase joint mobility and ameliorate the effects of muscle hypoplasia (usually calf muscles); surgical release of contractures as needed; bracing and/or surgical correction of kyphoscoliosis; standard management of aortic root dilation.

Surveillance: Echocardiogram every two years until absence of aortic involvement is evident; at least annual physical examination for evidence of kyphosis/scoliosis.

Genetic counseling.

Congenital contractural arachnodactyly is inherited in an autosomal dominant manner. Many individuals with CCA have an affected parent, although a proband may have the disorder as the result of a de novo pathogenic variant. The risk to the sibs of the proband depends on the status of the parents. If the parent of a proband has clinical features of CCA, the risk to the sibs is 50%. Germline mosaicism has been reported. Offspring of affected individuals have a 50% chance of inheriting the pathogenic FBN2 allele. Prenatal testing is possible if the pathogenic variant has been identified in an affected family member.


Clinical Diagnosis

Classic congenital contractural arachnodactyly (CCA) is diagnosed based on a constellation of clinical findings [Godfrey 2004]. Individuals with CCA typically have the following:

  • A marfanoid habitus (long, thin limbs, narrow head and body)
  • Flexion contractures of multiple joints including elbows, knees, hips, and fingers
  • Kyphoscoliosis (sometimes severe)
  • Muscular hypoplasia
  • Abnormal pinnae ("crumpled" outer helices)

Severe/lethal CCA is a rare form of CCA [Wang et al 1996, Snape et al 2006]. In addition to the typical features described for classic CCA, infants with severe/lethal CCA have the following anomalies:

  • Cardiovascular: atrial or ventricular septal defect, interrupted aortic arch, single umbilical artery, and aortic root dilatation (rare)
  • Gastrointestinal: duodenal or esophageal atresia and intestinal malrotation

Molecular Genetic Testing

Gene. FBN2 is the only gene in which mutation is known to cause congenital contractural arachnodactyly.

Evidence for locus heterogeneity. Given that fewer than 100% of individuals with CCA have an identifiable FBN2 pathogenic variant, locus heterogeneity is possible [Callewaert et al 2009, Nishimura et al 2007].

Table 1.

Molecular Genetic Testing Used in Congenital Contractural Arachnodactyly

Gene 1Test MethodPathogenic Variants Detected 2Variant Detection Frequency by Test Method 3
FBN2Sequence analysis 4Sequence variants27% 5, 44% 6, 75% 7
See footnotes 8 and 9
Deletion/duplication analysis 10Exon and whole-gene deletions/duplicationsUnknown; none reported 11

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a variant that is present in the indicated gene


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Only a small number of infants with severe/lethal CCA have been reported. A pathogenic variant in the same FBN2 region was identified in the one infant analyzed [Snape et al 2006].


Although most clinical laboratories sequence exons and flanking intronic regions from genomic DNA, sequence analysis of cDNA may be possible and has the advantage of easier detection/confirmation of pathogenic variants that affect splicing.


Testing that identifies deletions/duplications not detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and array CGH may be used.


No deletions or duplications of FBN2 have been reported to cause congenital contractural arachnodactyly. (Note: By definition, deletion/duplication analysis identifies rearrangements that are not identifiable by sequence analysis of genomic DNA.)

Testing Strategy

To confirm/establish the diagnosis in a proband. Diagnosis of CCA is based on the clinical features present. Molecular analysis can be confirmatory, but as noted in studies in which the entire coding region was sequenced, fewer than half of clinically identified probands have detected FBN2 pathogenic variants.

Clinical Characteristics

Clinical Description

Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. At the most severe end is "severe/lethal CCA." This form of CCA is rare, with few cases reported in the literature, one of which has been confirmed using molecular testing.

Phenotypic expression is variable within and between families. In one report, a mother with somatic mosaicism that affected the germline had features of classic CCA, while her daughter, who inherited the mutated FBN2 allele, had the severe/lethal form of CCA [Wang et al 1996].

Classic CCA. The following are seen in individuals with CCA:

  • Marfan syndrome-like appearance characterized by a tall and slender habitus with arm span exceeding height
  • Arachnodactyly (long slender fingers and toes)
  • "Crumpled" ears that present as a folded upper helix of the external ear
  • Joint contractures at birth:
    • Knees (81%) and elbows (86%) are most commonly affected.
    • The proximal interphalangeal joints of the fingers and toes display flexion contractures (i.e., camptodactyly).
    • Hip contractures (26%) are also seen.
    • Adducted thumbs (46%) and clubfoot may occur.
    • Contractures usually improve with time.
  • Bowed long bones (31%) and muscular hypoplasia (65%)
  • Kyphosis/scoliosis
    • Present in about 50% of affected individuals
    • Begins as early as infancy and is progressive, causing the greatest morbidity in CCA
  • Aortic root dilatation, documented in individuals with CCA with a characterized FBN2 pathogenic variant [Park et al 1998, Carmical et al 1999, Gupta et al 2002, Snape et al 2006, Callewaert et al 2009]. Its frequency is unknown.
  • Additional craniofacial abnormalities (significantly less common):
    • Mild micrognathia
    • High arched palate
    • Scaphocephaly
    • Brachycephaly
    • Dolichocephaly
    • Frontal bossing

Severe/lethal CCA. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears of CCA, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal anomalies [Wang et al 1996]. Although data are limited, all individuals with severe/lethal CCA have required surgery for various congenital malformations as early as the first week of life. Respiratory complications have been the cause of death in most. The age of death has ranged from eight days to 11.5 months.

Genotype-Phenotype Correlations

No genotype-phenotype correlations exist.


Penetrance is complete.


Congenital contractural arachnodactyly has been referred to as CCA.


The prevalence is not known, but appears to be lower than that of the Marfan syndrome.

CCA does not have any specific geographic or ethnic predilection.

Differential Diagnosis

A number of disorders have features that overlap with those of congenital contractural arachnodactyly (CCA).

The disorder most similar to CCA is the Marfan syndrome, caused by pathogenic variants in FBN1. Individuals with Marfan syndrome have lens subluxation, high myopia, and progressive aortic root dilation not characteristic of CCA; they also lack the "crumpled" ears and joint contractures seen at birth in individuals with CCA. Until molecular genetic studies distinguished the two disorders, it was speculated that they could be allelic. Differentiating the two disorders is most important given the severe cardiovascular complications and cardiac monitoring essential in individuals with the Marfan syndrome.

The Marfan syndrome and CCA can be distinguished by clinical findings. Diagnosis of either requires the presence of a constellation of clinical features. In both disorders, clinical diagnosis is the gold standard; molecular genetic testing can be used for confirmation of the diagnosis in some instances.

The severe/lethal form of CCA may be mistaken for the neonatal Marfan syndrome, the most severe end of the spectrum of the Marfan syndrome, in which the cardiovascular abnormalities include mitral and tricuspid valve anomalies and dilated aorta, while those in severe/lethal CCA include atrial and/or ventricular septal defects and interrupted aortic arch.

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families. At present, no consensus minimal clinical diagnostic criteria exist. Pathogenic variants affecting one of three genes (COL2A1, COL11A1, and COL11A2) have been associated with Stickler syndrome. Some individuals with Stickler syndrome have a marfanoid body habitus and typically the fingers are long and gracile, which may suggest the diagnosis of CCA. However, in Stickler syndrome joint laxity is present, as are other findings not typical for CCA, including myopia and retinal detachment, hearing loss that is both conductive and sensorineural, and midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence).

Homocystinuria, a multisystem disorder of amino acid metabolism caused by cystathionine β-synthase deficiency, typically affects the skeleton, joints, eye, and central nervous system. Skeletal features are similar to those seen in CCA and Marfan syndrome, and include limited joint mobility, dolichostenomelia, arachnodactyly, and kyphoscoliosis. Homocystinuria is clinically distinguishable from CCA by its other manifestations, such as lens subluxation, osteoporosis, and often developmental delay, as well as predisposition to thromboembolism. It can be definitively diagnosed by serum amino acid analysis.

Distal arthrogryposis is a hereditary congenital joint contracture disorder, characterized by involvement of the hands and feet. Typical joint findings are medially overlapping fingers, clenched fists, ulnar deviation of fingers, camptodactyly, positional foot deformities, and clubfoot. Distal arthrogryposis can be clinically distinguished from CCA by absence of marfanoid habitus, arachnodactyly, contractures of knees and elbows, and crumpled ears.


Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with congenital contractural arachnodactyly (CCA), the following evaluations are recommended:

  • Echocardiogram
  • Musculoskeletal examination for the presence of contractures and kyphosis/scoliosis
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Classic CCA

  • Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually calf muscles). This type of therapy is best instituted in childhood. As affected individuals age, spontaneous improvement in camptodactyly is frequently observed.
  • Surgical release of contractures may be necessary.
  • The kyphoscoliosis tends to be progressive, requiring bracing and/or surgical correction. Consultation with an orthopedist is encouraged.
  • Aortic root dilation, if present, is managed in a standard manner.

Severe/lethal CCA. no general recommendations exist; findings need to be managed in a standard manner as they arise.


The following are appropriate:

  • Echocardiogram every two years until it is clear that the aorta is not involved
  • At least annual physical examination for evidence of kyphosis/scoliosis

Evaluation of Relatives at Risk

Establishing the diagnosis of CCA early in at-risk relatives may permit more careful surveillance of affected individuals (see Surveillance).

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search in the US and in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Congenital contractural arachnodactyly (CCA) is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

Sibs of a proband. The risk to the sibs of the proband depends on the status of the parents:

  • If a parent of the proband has clinical features of CCA, the risk to the sibs is 50%.
  • If neither parent is clinically affected and if the pathogenic variant identified in the proband cannot be detected in the DNA extracted from the leukocytes of either parent, there is still a small (but unknown) risk to the sibs because germline mosaicism has been reported in three unrelated families; in one case, an unaffected father had two children with CCA [Putnam et al 1997].

Offspring of a proband. Each child of an individual with CCA has a 50% chance of inheriting the pathogenic variant.

Other family members of the proband. The risk to other family members depends on the status of the proband's parents: if a parent is affected or has an FBN2 pathogenic variant, his or her family members are at risk.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Considerations in families with an apparent de novo pathogenic variant. When neither parent of a proband with an autosomal dominant condition has the pathogenic variant or clinical evidence of the disorder, it is likely that the proband has a de novo variant. However, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the pathogenic variant has been identified in an affected family member, prenatal diagnosis for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.

Fetal ultrasound examination. While joint contractures may be identified by ultrasound examination of an at-risk fetus, a normal fetal ultrasound examination does not exclude the diagnosis of CCA.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Genetic Aortic Disorders Association (GADA) Canada
    Centre Plaza Postal Outlet
    128 Queen Street South
    PO Box 42257
    Mississauga Ontario L5M 4Z0
    Phone: 866-722-1722 (toll free); 905-826-3223
  • National Marfan Foundation (NMF)
    22 Manhasset Avenue
    Port Washington NY 11050
    Phone: 800-862-7326 (toll-free); 516-883-8712
    Fax: 516-883-8040

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Congenital Contractural Arachnodactyly: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
FBN25q23​.3Fibrillin-2FBN2 @ LOVDFBN2FBN2

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Congenital Contractural Arachnodactyly (View All in OMIM)


Molecular Genetic Pathogenesis

Fibrillin 2 was serendipitously discovered during the search for the molecular basis of the Marfan syndrome and the identification of FBN1. Fibrillin 2 is co-distributed with fibrillin 1 in many tissues of the developing embryo. Fibrillin 2 expression appears to be greatest in matrices rich in elastic fibers. Studies have compared the distribution of fibrillin 1 and fibrillin 2 in tissues. For example, human ear cartilage shows differential expression of the two fibrillins. Abnormally shaped auricular helices are a hallmark of congenital contractural arachnodactyly (CCA). Immunostaining studies of fetal aorta have shown preferential staining of fibrillin 2 in the elastic-rich media, while fibrillin 1 immunostaining was observed in all three aortic layers. In hyaline cartilage, fibrillin 1 was seen throughout the tissue, while fibrillin 2 was localized to the periphery and perichondrium. Fibrillin 2 expression in the lung was also lower than that of fibrillin 1.

Given the differential expression of the fibrillins in fetal tissue and the much lower expression of fibrillin 2 versus fibrillin 1 in adult tissues, a general hypothesis has emerged: fibrillin 2 directs the assembly of elastic fibers during early embryogenesis, while fibrillin 1 provides the major structural (i.e., "load-bearing") function of the microfibrils [Robinson & Godfrey 2000].

Gene structure. FBN2 is highly homologous to FBN1, pathogenic variants in which are known to cause the Marfan syndrome. The structure of FBN2 has been described by Zhang et al [1994]. It encodes a multidomain protein with five distinct structural regions comprising 65 exons. The largest of these structural regions contains 41 calcium binding-epidermal growth factor (cb-EGF)-like domains. The single longest stretch of cb-EGF-like domains is 12; it is here that all pathogenic variants causing CCA have been found to date. This is also the region of greatest homology between the fibrillins. Upstream from this region of high homology is a region (encoded by a single exon) with the most divergence. This highly divergent region is proline rich in fibrillin 1 and glycine rich in fibrillin 2. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. Table 2 (pdf) lists selected FBN2 pathogenic variants. Most pathogenic variants identified to date cluster in the single longest stretch of cb-EGF-like domains of FBN2 [Park et al 1998, Gupta et al 2002, Frédéric et al 2009, Callewaert et al 2009].

Normal gene product. Fibrillin 2 is a glycoprotein of the extracellular matrix microfibrils.

Abnormal gene product. The precise function of fibrillin 2 is not known. Therefore, the mechanism of an abnormal gene product in contributing to the pathophysiology of CCA is not known. Of note, mice lacking Fbn2 or having a pathogenic variant in that gene have syndactyly. This finding suggests that FBN2 pathogenic variants outside the "neonatal region" may cause non-CCA phenotypes in humans [Arteaga-Solis et al 2001, Chaudhry et al 2001].


Literature Cited

  • Arteaga-Solis E, Gayraud B, Lee SY, Shum L, Sakai L, Ramirez F. Regulation of limb patterning by extracellular microfibrils. J Cell Biol. 2001;154:275–81. [PMC free article: PMC2150751] [PubMed: 11470817]
  • Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat. 2009;30:334–41. [PubMed: 19006240]
  • Carmical SG, Gupta P, Milewicz DM, Putnam EA. FBN2 mutations identified in congenital contractural arachnodactyly patients with aortic root dilatation. Am J Hum Genet. 1999;65S:A6.
  • Carmical SG, Gupta P, Milewicz DM, Putnam EA. FBN2 mutations in congenital contractural arachnodactyly (CCA). Am J Hum Genet. 2000;67S:399.
  • Chaudhry SS, Gazzard J, Baldock C, Dixon J, Rock MJ, Skinner GC, Steel KP, Kielty CM, Dixon MJ. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet. 2001;10:835–43. [PubMed: 11285249]
  • Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat. 2009;30:181–90. [PubMed: 18767143]
  • Godfrey M. Fibrillin-2 mutations in congenital contractural arachnodactyly. In: Robinson PN, Godfrey M, eds. Marfan Syndrome: A Primer for Clinicians and Scientists. New York, NY: Plenum; 2004:123-9.
  • Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Ades LC, Milewicz DM. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002;19:39–48. [PubMed: 11754102]
  • Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Am J Med Genet A. 2007;143:694–8. [PubMed: 17345643]
  • Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Am J Med Genet. 1998;78:350–5. [PubMed: 9714438]
  • Putnam EA, Park ES, Aalfs CM, Hennekam RC, Milewicz DM. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet. 1997;60:818–27. [PMC free article: PMC1712457] [PubMed: 9106527]
  • Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000;37:9–25. [PMC free article: PMC1734449] [PubMed: 10633129]
  • Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. Clin Dysmorphol. 2006;15:95–99. [PubMed: 16531736]
  • Wang M, Clericuzio CL, Godfrey M. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet. 1996;59:1027–34. [PMC free article: PMC1914850] [PubMed: 8900230]
  • Zhang H, Apfelroth SD, Hu W, Davis EC, Sanguineti C, Bonadio J, Mecham RP, Ramirez F. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol. 1994;124:855–63. [PMC free article: PMC2119952] [PubMed: 8120105]

Suggested Reading

  • Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006;43:769–87. [PMC free article: PMC2563177] [PubMed: 16571647]

Chapter Notes

Revision History

  • 23 February 2012 (me) Comprehensive update posted live
  • 4 May 2007 (me) Comprehensive update posted live
  • 5 April 2006 (cd) Revision: FBN2 testing clinically available
  • 29 December 2004 (me) Comprehensive update posted live
  • 5 February 2003 (me) Comprehensive update posted live
  • 23 January 2001 (me) Review posted live
  • June 2000 (mg) Original submission
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