Genetics of Marfan Syndrome Differential Diagnoses

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
Updated: Mar 21, 2016

Diagnostic Considerations

The following disorders present considerable diagnostic challenges because of shared features, overlapping phenotypes, similar inheritance patterns, and, at least for some, causation by mutations in the same gene, FBN1.[19]

Congenital contractural arachnodactyly (Beals syndrome)[20, 21]

This is a rare autosomal-dominant syndrome (OMIM 12105) that has considerable overlap with Marfan syndrome. Cardinal clinical feature include the following:

  • Crumpled ears
  • Arachnodactyly
  • Congenital contractures of small and large joints
  • Usually progressive kyphoscoliosis
  • Muscular hypoplasia
  • First case of mitral valve prolapse described
  • Absence of ectopia lentis

Recently, mild aortic root enlargement has been reported in a few patients, but progression to dissection or rupture remains unclear.

Congenital contractural arachnodactyly is caused by mutations in the fibrillin-2 gene (FBN2), which is closely related to FBN1.

Ehlers-Danlos syndrome, Type III (hypermobile type) (OMIM 130020)

Major diagnostic criteria are as follows; all of the following criteria should be met to establish a diagnosis for Ehlers-Danlos syndrome, hypermobility type:

  • Joint hypermobility
  • Soft or velvety skin with normal or slightly increased extensibility

Minor diagnostic criteria are as follows; the following are supportive but not sufficient to establish the diagnosis:

  • Autosomal dominant family history of similar features without skin abnormalities
  • Recurrent joint dislocation or subluxation
  • Chronic joint or limb pain
  • Easy bruising
  • Functional bowel disorders (functional gastritis, irritable bowel syndrome)
  • Neurally mediated hypotension or postural orthostatic tachycardia
  • High, narrow palate
  • Dental crowding

Ehlers-Danlos syndrome, type IV (vascular type) (OMIM 130050):

This condition is caused by heterozygous mutation in the gene for type III collagen (COL3A1) on chromosome 2q31.

Major diagnostic criteria include the following:

  • Thin translucent skin
  • Arterial/intestinal/uterine fragility or rupture
  • Easy bruising
  • Characteristic facies in some patients (thin lips and philtrum, small chin, thin nose, and large eyes

Minor diagnostic criteria are as follows:

  • Acrogeria
  • Hypermobility of small joints
  • Tendon and muscle rupture
  • Talipes equinovarus
  • Early-onset varicose veins
  • Arteriovenous, carotid-cavernous sinus fistula
  • Pneumothorax/pneumohemothorax
  • Chronic joint subluxations/dislocations
  • Gingival recession
  • A positive history consistent with autosomal dominant inheritance and sudden death in close relatives

Familial arterial tortuosity syndrome (OMIM 208250)

Features are as follows:

  • Marked tortuosity of the aorta and its branches
  • Predisposition to dissection
  • Telangiectases of the cheeks
  • Lax skin
  • High palate
  • Joint laxity
  • Mutations in a nuclear glucose transporter encoded by the SLC2A10

Familial ectopic lentis (OMIM 129600)[22]

Isolated ectopia lentis has been shown to segregate as a dominant trait in several families. Patients do not meet diagnostic criteria for Marfan syndrome, although mild marfanoid skeletal features may be present. Lifelong follow-up by echocardiography is advised as aortic root dilatation occurs later in life in some patients. It is associated with mutations near the 3'-end of FBN1.

Familial mitral valve prolapse syndrome (OMIM 157700)

This occurs as an autosomal dominant trait either isolated or in association with an asthenic habitus. It may show aortic dilatation.

Familial pectus excavatum (OMIM 169300), familial scoliosis, and familial tall structure

This is characterized by no systemic survey of disproportionately tall individuals for other features of Marfan syndrome or mutations in FBN1.

Familial thoracic aortic aneurysm/dissection (OMIM 132900, 607086)[22]

This is a progressive disorder with no or minor systemic involvement.

Occasional patients with aortic aneurysm have deformity of the thoracic cage (scoliosis, pectus excavatum). These skeletal features are also seen in people with bicuspid aortic valve sequence, raising the question of whether patients with only ascending aortic aneurysms are simply failing to express the bicuspid valve.

Patients are at risk for dissection or rupture of the aorta.

Occasional FBN1 mutations have been identified.

Mutations in TGFβR2 gene have recently been implicated as a rare cause (5%) in familial thoracic aortic aneurysm, with more widespread vascular disease and aneurysms and dissections of the descending aorta and middle-sized arteries.

Two splicing and one missense mutation in the MYH11 gene have been described in 2 families with this condition and patent ductus arteriosus.[23]

Loeys-Dietz syndrome type I (OMIM 609192)[3]

Loeys-Dietz syndrome type I is a novel autosomal-dominant aortic aneurysm syndrome. It is characterized by the triad of hypertelorism, bifid uvula/cleft palate, and arterial tortuosity with ascending aortic aneurysm/dissection. It is caused by heterozygous loss-of-function mutations in the TGFβR1 or TGFβR2 gene.

The main differences with Marfan syndrome include the absence of significant long bone overgrowth or lens dislocation and the presence of multiple other findings, including craniosynostosis, Chiari malformation, club feet, patent ductus arteriosus, and aneurysms/dissection throughout the arterial tree.

Loeys-Dietz syndrome type II (OMIM 309520)[24]

In contrast to Loeys-Dietz syndrome type 1, some patients have fewer craniofacial abnormalities but prominent skin and joint manifestations, more reminiscent of vascular Ehlers-Danlos syndrome.

This subset of patients (Loeys-Dietz syndrome type II) is characterized by velvety and translucent skin, easy bruising, widened atrophic scars, uterine rupture, severe peripartal bleedings, and arterial aneurysm/dissections throughout the arterial circulation.

Important, the natural history of patients with TGFβR1/2 mutations is far more aggressive than in Marfan syndrome or even vascular Ehlers-Danlos syndrome, with a mean age at death of 26.1 years. Aortic dissections occur in young childhood and/or at smaller aortic dimensions (< 40 mm), and the incidence of pregnancy-related complications is high.

Loeys-Dietz syndrome type III (OMIM 613795)

It is caused by a heterozygous mutation of the SMA D gene on chromosome 15q22.33. This condition is characterized by arterial aneurysm/dissection with early-onset osteoarthritis.

Loeys-dietz syndrome type IV (OMIM 614816)

It is caused by a heterozygous mutation in the TGFB2 gene on chromosome 1q41. This condition is characterized by aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations. No ectopic lentis is present.

Mitral valve prolapse, myopia, aortic dilation, skin, and skeletal (MASS) phenotype (OMIM 604308)[25, 26]

In many individuals evaluated for Marfan syndrome who do not meet the diagnostic criteria, a varying constellation of mitral valve prolapse; myopia; mild, nonprogressive aortic root dilation, and marfanoid skeletal and skin (striae atrophicae) features is depicted (MASS phenotype). This phenotype may segregate as a dominant trait and remain stable over time.

Almost all patients diagnosed as having MASS over a decade showed no progressive aortic root dilatation or aortic dissection.

In rare instances, FBN1 mutations have been identified.

Stickler syndrome (OMIM 108300, 604841, 609508, 184840)

The overlapping features with Marfan syndrome include retrognathia, high-grade myopia and retinal detachment, and mitral valve prolapse.

Homocystinuria (OMIM 236300)[27]

Homocystinuria is a recessively inherited metabolic disorder characterized by ectopia lentis, long bone overgrowth, mental retardation, and a high predisposition to thromboembolism and coronary artery disease in the absence of aortic root dilation. Diagnosis is based on the presence of elevated concentrations of homocystine in urine or plasma.

Shprintzen-Goldberg syndrome (OMIM 182212)[28, 29, 30]

Shprintzen-Goldberg syndrome typically includes craniosynostosis, hypertelorism, and, rarely, aortic root dilatation. Other features include exophthalmos, maxillary and mandibular hypoplasia, low-set ears, arachnodactyly, abdominal hernias, and intellectual disability. It is caused by pathogenic mutations in the SKI gene. These patients differ from Marfan syndrome patients in that they usually have some level of intellectual disability and craniosynostosis is often present, but these patients do not have ectopic lentis.

Differential Diagnoses

Contributor Information and Disclosures

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

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Adult with Marfan syndrome. Note tall and thin build, disproportionately long arms and legs, and kyphoscoliosis.
Positive wrist (Walker) sign.
Positive thumb (Steinberg) sign.
Pectus excavatum of moderate severity.
Hypermobility of finger joints.
Stretch marks (striae atrophicae) in the lower back.
Dural ectasia in the lumbosacral region.
Typical face seen in a girl with Marfan syndrome characterized by dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures.
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