Related Disorders | The Marfan Foundation

Related Disorders

ConditionSymptom Overlap with Marfan SyndromeDiscriminating FeaturesGene
Loeys-Dietz Syndrome
  • Aortic root enlargement and dissection.
  • Variable skeletal findings
  • Dural Ectasia
  • Stretch Marks
  • Craniosynostosis
  • Diffuse aortic and arterial aneurysms and dissections
  • Arterial tortuosity
  • Gastrointestinal problems
  • Cleft palate/bifid uvula
  • Gastrointestinal problems
  • Club foot
  • Cervical spine instability
  • Lens dislocation not found
  • Hypertelorism
  • Thin and velvety skin
  • Easy bruising
  • Thin and velvety skin
  • Translucent skin
  • Dystrophic scars

TGFBR1
TGFBR2

SMAD3

TGFB2

TGFB3

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)
  • Aortic enlargement and dissection.
  • Lack of marfanoid skeletal features
  • Iris flocculi
  • Levido reticularis (common in other connective tissue disorders including Marfan)
  • Dislocated lenses not found
  • Dural ectasia not found

ACTA2
MYLK
PRKG1

MYH11

MFAP5

MAT2A

FTAAD with biscuspid aortic valve (BAV)
  • Aortic enlargement (root and ascending) and dissection.
  • Male predominance
  • Aortic stenosis can occur
Unknown
FTAAD with patent ductus arteriosus (PDA)
  • Aortic enlargement and dissection.
Frequent PDAMYH11
Arterial tortuosity syndrome (ATS)
  • Aortic enlargement and dissection
  • Generalized arterial tortuosity
  • Arterial stenosis
  • Facial dysmorphism
SLC2A10
Ectopia Lentis Syndrome (Dislocated Lens)
  • Eye lens dislocation
  • Common skeletal findings
  • Aortic root dilation/aneurysms not found
FBN-1
LTBP2
ADAMTSL-4
Shprintzen-Goldberg Syndrome
  • Mitral valve prolapse
  • Skeletal findings
  • Myopia
  • Craniosynostosis
  • Hypertelorism
  • Delayed motor and cognitive milestones
  • Mental retardation
  • Aortic root dilatation is uncommon
  • C1-C2 abnormality
SKI
(rarely FBN-1)
Ehlers-Danlos Syndrome
  • Skeletal Findings
  • Valve prolapse and Aortic enlargement and dissection in selected types only
Vascular type:
  • Arterial, intestinal, uterine fragility and rupture
  • Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, and large eyes)
  • Thin translucent skin with easy bruising
  • Dystropic scars
  • Facial characteristics
Hypermobility type:
  • Joint Subluxation common
  • Skin soft or velvety, may be mildly hyperextensible
Kyphoscoliotic Type:
  • Progressive scoliosis present at birth or within first year of life
  • Scleral fragility and rupture of the globe
  • Severe muscle hyptonia at birth
  • Friable, hyperextensible skin
  • Generalized joint laxity
Classic Type:
  • Skin fragility and hyperextensibility
  • Widened atrophic scars
  • Joint hypermobility
  • Aortic root dilation can occur
COL3A1 (vascular)
TNXB (hypermobility)
PLOD1 (kyphoscoliotic)
COL5A1/COL5A2 (classic)
Homocystinuria
  • Mitral Valve Prolapse
  • Eye lens dislocation and myopia
  • Skeletal findings
  • Arterial and venous thrombosis
  • Mental retardation
  • Seizures common
CBS
Beals Syndrome (Congenital Contractural Arachnodactyly)
  • Mitral valve prolapse and aortic enlargement can occur
  • Variable skeletal findings
  • Crumpled appearance to the top of the ear
  • Inability to fully extend multiple joints such as fingers, elbows, knees, toes and hip contractures
  • Delay in motor development often occurs (due to congenital contractures)
  • Eyes are not affected
  • Dissections very rare
FBN-2
Stickler Syndrome
  • Myopia Retinal detachment Joint hypermobility or contracture
  • Scoliosis
  • Mitral Valve Prolapse
  • Hearing loss
  • Chorioretinal and vitreous degeneration are the hallmark of the syndrome
  • Orofacial involvement such as cleft palate
  • Premature osteoarthritis
COL2A1
COL9A1
COL9A2
COL11A1
COL11A2
MASS phenotype
  • Mitral valve prolapse
  • Aorta root diameter remains at the upper limits of normal
  • Skin (stretch marks)
  • Skeletal features (scoliosis, chest wall deformities, joint hypermobility)
  • Aorta does not progress in enlargement
  • Dislocated lenses not found
FBN-1 (Rarely)