Genetics of Ehlers-Danlos Syndrome Clinical Presentation

  • Author: Robert D Steiner, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 17, 2011
 

History

Although much has been learned regarding the molecular basis of some forms of Ehlers-Danlos syndrome (EDS), an accurate clinical diagnosis is the primary means of identifying affected individuals. Currently, diagnosis of relatively few of the known types of Ehlers-Danlos syndrome (vascular form [IV], lysyl hydroxylase deficiency [VI], arthrochalasia [VIIA and B], and dermatosparaxis [Ehlers-Danlos syndrome VIIC]) can be confirmed using molecular or biochemical laboratory testing. All forms of Ehlers-Danlos syndrome share the following primary features to varying degrees:

  • Skin hyperextensibility
  • Joint hypermobility and excessive dislocations
  • Tissue fragility
  • Poor wound healing, leading to wide thin scars: The classic description of abnormal scar formation in Ehlers-Danlos syndrome is "cigarette paper scars."
  • Easy bruising
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Physical

Clinical forms of Ehlers-Danlos syndrome

At least 6 discernible phenotypes of Ehlers-Danlos syndrome are recognized; however, a great deal of overlap among the phenotypes is observed, making absolute clinical diagnosis difficult, if not impossible, at times. As many as 50% of patients with Ehlers-Danlos syndrome do not have a type or form that can be classified easily on clinical basis alone. This complicates the diagnostic process, because specific molecular diagnosis or confirmation (if available) may not be possible until a clinical subtype has been defined.

The table below lists the identifiable forms of Ehlers-Danlos syndrome proposed by a group of clinical experts from the medical advisory board of the Ehlers-Danlos National Foundation (EDNF) in 1997.[7] This nosology is currently used in the clinical setting.

Table 1. Types of Ehlers-Danlos Syndromes[7] (Open Table in a new window)

TypeInheritancePrevious NomenclatureMajor Diagnostic CriteriaMinor Diagnostic Criteria
ClassicAutosomal dominantTypes I and IISkin hyperextensibility,



wide atrophic scars, joint hypermobility



Smooth, velvety skin; easy bruising; molluscoid pseudotumors; subcutaneous spheroids; joint hypermobility; muscle hypotonia; postoperative complication (eg, hernia); positive family history; manifestations of tissue fragility (eg, hernia, prolapse)
HypermobilityAutosomal dominantType IIISkin involvement (soft, smooth and velvety), joint hypermobilityRecurrent joint dislocation; chronic joint pain, limb pain, or both; positive family history
VascularAutosomal dominantType IVThin, translucent skin; arterial/intestinal fragility or rupture; extensive bruising; characteristic facial appearanceAcrogeria,



hypermobile small joints; tendon/muscle rupture; clubfoot; early onset varicose veins; arteriovenous, carotid-cavernous sinus fistula;



pneumothorax;



gingival recession; positive family history; sudden death in close relative



KyphoscoliosisAutosomal recessive Type VI – lysyl hydroxylase deficiencyJoint laxity, severe hypotonia at birth, scoliosis, progressive scleral fragility or rupture of globeTissue fragility,



easy bruising, arterial rupture,



marfanoid,



microcornea,



osteopenia,



positive family



history (affected sibling)



ArthrochalasiaAutosomal dominantType VII A, BCongenital bilateral dislocated hips,



severe joint hypermobility,



recurrent subluxations



Skin hyperextensibility,



tissue fragility with atrophic scars, muscle hypotonia,



easy bruising,



kyphoscoliosis, mild osteopenia



DermatosparaxisAutosomal recessiveType VII CSevere skin fragility; saggy, redundant skinSoft, doughy skin;



easy bruising; premature rupture of membranes; hernias (umbilical and inguinal)



The major diagnostic criteria are highly specific. The presence of one or more major criteria is necessary for clinical diagnosis and is highly indicative and warrants laboratory confirmation whenever possible. One or more minor diagnostic criteria aid in clinical diagnosis but are not sufficient.

Other forms of the syndrome have been reported. Type V Ehlers-Danlos syndrome was described in a single family. Type VIII is similar to classic Ehlers-Danlos syndrome but is also associated with periodontal disease; it is not a clearly distinct clinical entity. Type IX has been reclassified as an allelic form of Menkes disease. Type X was described in one family. Type XI was described as familial hypermobility syndrome and was previously removed from classifications. Ehlers-Danlos–like syndrome from tenascin-X deficiency has recently been described. Type I collagen mutations can cause an arthrochalasia-type syndrome with predisposition to arterial rupture in early adulthood.

The Online Mendelian Inheritance in Man (OMIM) database provides updated information on the clinical and molecular understanding of single gene (monogenic) disorders. The inheritance pattern, OMIM number, and original clinical descriptions of 10 major types of Ehlers-Danlos syndrome are listed below. The OMIM entries were reviewed in developing the Villefranche classification and include the following:

  • Ehlers-Danlos syndrome type I (OMIM #130000, autosomal dominant): Distinguishing features include easy bruising, mitral valve prolapse, premature rupture of the fetal membranes, and premature birth.
  • Ehlers-Danlos syndrome type II (OMIM #130010, autosomal dominant): This phenotype is similar to type 1, but the effects are milder.
  • Ehlers-Danlos syndrome type III (OMIM #130020, autosomal dominant): Features include striking joint hypermobility and minimal skin changes.
  • Ehlers-Danlos syndrome type IV (OMIM #130050, autosomal dominant): Type IV is the vascular/ecchymotic form. Patients with type IV Ehlers-Danlos syndrome have prominent venous markings, which are readily visible through the skin. Diagnostically, this type is most important because patients are subject to spontaneous rupture of the bowel, medium-sized arteries, or both. Often, rupture leads to early death. Median life expectancy in these patients is 45-50 years.
  • Ehlers-Danlos syndrome type V (OMIM #305200, X-linked recessive): This phenotype is similar to, if not indistinguishable from, type 2; however, in familial cases, type V exhibits X-linked recessive inheritance.
  • Ehlers-Danlos syndrome type VI (OMIM #225400, autosomal recessive): Patients may present with retinal detachments, microcornea, myopia, and scoliosis. Differentiating hypermobility from neuromuscular hypotonia in these patients may be difficult.[8]
  • Ehlers-Danlos syndrome type VII (OMIM #130060, types VIIA and VIIB, autosomal dominant; OMIM #225410, type VIIC, autosomal recessive): Patients exhibit arthrochalasis multiplex congenita (hyperflaccidity of the joints without hyperelasticity of the skin), short stature, and micrognathia. Multiple congenital skull fractures have been reported in Ehlers-Danlos syndrome type VIIC.[9]
  • Ehlers-Danlos syndrome type VIII (OMIM #130080, autosomal dominant): In addition to the other notable features, patients with type VIII Ehlers-Danlos syndrome have multiple skin striae and significant dental problems, including early tooth loss, periodontitis, and alveolar bone loss.
  • Ehlers-Danlos syndrome type IX (OMIM #304150, X-linked recessive): Features include occipital exostoses, bladder diverticula or rupture, bony dysplasias, and decreased copper and ceruloplasmin. Ehlers-Danlos syndrome type IX is no longer a subtype. Once the gene was identified, type IX was removed from the Ehlers-Danlos syndrome classification. The gene is related to a condition termed cutis laxa or occipital horn syndrome (see Causes).
  • Ehlers-Danlos syndrome type X (OMIM #225310, autosomal recessive): Patients exhibit poor wound healing, petechiae, and a platelet aggregation defect, which can be corrected with fibronectin supplementation.

Since the classification scheme was accepted, a possibly new form has been described. Six patients from 2 consanguineous families were reported to have Ehlers-Danlos syndrome–like features and radiological findings of a skeletal dysplasia.[10] Findings included hyperelastic, thin, and bruisable skin; hypermobile small joints with a tendency to contractures; and protuberant eyes with bluish sclerae.

The affected individuals had platyspondyly with moderate short stature, osteopenia, and widened metaphyses. All patients in the initial report had a homozygous c.483_491 del9 SLC39A13 mutation that encodes for a membrane-bound zinc transporter SLC39A13. These data suggested a new entity the authors designated spondylocheiro dysplastic form of Ehlers-Danlos syndrome to indicate a generalized skeletal dysplasia that mainly involves the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the Ehlers-Danlos syndrome–like features.

The existence and classification of type VIII is under debate.[11] Hypermobility can be objectively determined.[12] A galactosyltransferase I deficiency form of progeroid Ehlers-Danlos syndrome has been described.[13]

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Causes

Recently, the progress of the Human Genome Project and other advances in molecular genetics have provided much information regarding the molecular basis of Ehlers-Danlos syndrome. Physical positions of involved genes and their locations on chromosomal maps are provided in the table below.

Table 2. Molecular Basis of Ehlers-Danlos Syndrome (Open Table in a new window)

TypeOld NomenclatureProtein AbnormalityGene AbnormalityChromosome Locus
ClassicType I/IIType V collagenCOL5A1,COL5A29q34.2-34.3



2q31



HypermobilityType IIIUnknownUnknownUnknown
VascularType IVType III collagenCOL3A12q31
KyphoscoliosisType VILysyl hydroxylase deficiency (some)PLOD11p36.3-36.2
ArthrochalasiaType VII A/BType I collagenCOL1A1



COL1A2



17q31-22.5



7q22.1



DermatosparaxisType VIICN-proteinaseADAMST25q23-24
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Contributor Information and Disclosures
Author

Robert D Steiner, MD  Credit Unions for Kids Professor of Pediatric Research; Faculty, Pediatrics, Molecular and Medical Genetics, and Program in Molecular and Cellular Biosciences; Vice Chair for Research in Pediatrics, Doernbecher Children's Hospital, Oregon Health and Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Amicus Honoraria Consulting; Actelion Honoraria Consulting; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Consulting; Genzyme Honoraria Consulting; Shire Honoraria Consulting

Specialty Editor Board

Michael Fasullo, PhD  Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous coauthors G Bradley Schaefer, MD, and Melanie G Pepin, MS, CGC, to the original writing and development of this article.

References

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Patient with Ehlers-Danlos syndrome. Note the abnormal ability to elevate the right toe. Courtesy of Enrico Ceccolini, MD.
Girl with Ehlers-Danlos syndrome. Dorsiflexion of all the fingers is easy and absolutely painless. Courtesy of Enrico Ceccolini, MD.
Patient with Ehlers-Danlos syndrome mitis. Joint hypermobility is less intense than with other conditions. Courtesy of Enrico Ceccolini, MD.
Table 1. Types of Ehlers-Danlos Syndromes[7]
TypeInheritancePrevious NomenclatureMajor Diagnostic CriteriaMinor Diagnostic Criteria
ClassicAutosomal dominantTypes I and IISkin hyperextensibility,



wide atrophic scars, joint hypermobility



Smooth, velvety skin; easy bruising; molluscoid pseudotumors; subcutaneous spheroids; joint hypermobility; muscle hypotonia; postoperative complication (eg, hernia); positive family history; manifestations of tissue fragility (eg, hernia, prolapse)
HypermobilityAutosomal dominantType IIISkin involvement (soft, smooth and velvety), joint hypermobilityRecurrent joint dislocation; chronic joint pain, limb pain, or both; positive family history
VascularAutosomal dominantType IVThin, translucent skin; arterial/intestinal fragility or rupture; extensive bruising; characteristic facial appearanceAcrogeria,



hypermobile small joints; tendon/muscle rupture; clubfoot; early onset varicose veins; arteriovenous, carotid-cavernous sinus fistula;



pneumothorax;



gingival recession; positive family history; sudden death in close relative



KyphoscoliosisAutosomal recessive Type VI – lysyl hydroxylase deficiencyJoint laxity, severe hypotonia at birth, scoliosis, progressive scleral fragility or rupture of globeTissue fragility,



easy bruising, arterial rupture,



marfanoid,



microcornea,



osteopenia,



positive family



history (affected sibling)



ArthrochalasiaAutosomal dominantType VII A, BCongenital bilateral dislocated hips,



severe joint hypermobility,



recurrent subluxations



Skin hyperextensibility,



tissue fragility with atrophic scars, muscle hypotonia,



easy bruising,



kyphoscoliosis, mild osteopenia



DermatosparaxisAutosomal recessiveType VII CSevere skin fragility; saggy, redundant skinSoft, doughy skin;



easy bruising; premature rupture of membranes; hernias (umbilical and inguinal)



Table 2. Molecular Basis of Ehlers-Danlos Syndrome
TypeOld NomenclatureProtein AbnormalityGene AbnormalityChromosome Locus
ClassicType I/IIType V collagenCOL5A1,COL5A29q34.2-34.3



2q31



HypermobilityType IIIUnknownUnknownUnknown
VascularType IVType III collagenCOL3A12q31
KyphoscoliosisType VILysyl hydroxylase deficiency (some)PLOD11p36.3-36.2
ArthrochalasiaType VII A/BType I collagenCOL1A1



COL1A2



17q31-22.5



7q22.1



DermatosparaxisType VIICN-proteinaseADAMST25q23-24
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