|
Condition
|
Symptom Overlap with Marfan Syndrome
|
Discriminating
Features
|
Gene
|
|
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
- club foot
- cervical spine instability
- Lens dislocation not found
- Hypertelorism
- Thin and velvety skin
- Easy bruising
- Translucent skin
- Dystrophic scars
|
TGFBR1/2
|
|
Familial Thoracic Aortic Aneurysm Syndrome (FTAA)
|
- Aortic enlargement (root or acending) and dissection.
|
- Lack of marfanoid skeletal features
- Diffuse aortic and arterial aneurysms and dissections (TGFBR 1 and TGFBR 2)
- Iris flocculi (ACTA2)
- Levido reticularis (ACTA2 (common in other connective tissue disorders including Marfan)
- Occlusive vascular diseases include stroke, Moyamoya disease and coronary artery disease (ACTA2)
- BAV and PDA (ACTA 2)
- Dislocated lenses not found
- Dural ectasia not found
- Male predominance
|
TGFBR1
TGFBR2
ACTA2
The genes listed account for approximately 20% of FTAA. Many genes not yet identified
|
|
FTAA with biscuspid aortic valve (BAV)
|
- Aortic enlargement (root or ascending) and dissection.
|
- Male predominance
- Aortic stenosis can occur
|
Unknown
|
|
FTAA with patent ductus arteriosus (PDA)
|
- Aortic enlargement and dissection.
|
Frequent PDA
|
MYH11
|
|
Arterial tortuosity syndrome (ATS)
|
- Aortic enlargement and dissection
- Generalized arterial tortuosity
- Arterial stenosis
- Facial dysmorphism
|
|
SLC2A10
|
|
Familial Ectopia Lentis (Dislocated Lens)
|
- Eye lens dislocation
- Common skeletal findings
- Aortic root dilation/aneurysms not found but patients with FBN-1 mutations need periodic screening for aortic root aneurysms
|
|
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
|
FBN-1 and other
|
|
Ehlers-Danlos Syndrome
(vascular, valvular, kyphoscoliotic type)
|
- 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 COL1A2 PLOD1
|
|
Homocystinuria
|
- Mitral Valve Prolapse
- Eye lens dislocation and myopia
- Skeletal findings
- Arterial and venous thrombosis
- Mental retardation
- Seizures common
|
|
CBS
|
|
Weill-Marchesani
|
|
- Microspherophakia
- Short stature
- Brachydactyly
- joint stiffness
- No aneurysms
|
FBN1 and
ADAMTS10
|
|
Congenital Contractural Arachnodactyly (CCA or Beals syndrome)
|
- 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 COL9A COL11A1 COL11A2
|
|
MASS phenotype, Mitral Valve Prolapse, Myopia
|
- Aorta remains at the upper limits of normal
- Skin (stretch marks) and skeletal findings
- Mitral valve prolapse
- Myopia
- Marfanoid skeletal findings
- Aorta does not progress in enlargement
- Dislocated lenses not found
|
|
FBN-1 (Rarely)
|
|
Marfanoid Habitus
(Marfan Body Type)
|
- Skeletal findings
- No heart/aortic and ocular involvement
|
|
FBN-1 (Rarely)
|
|
Mitral Valve Prolapse Syndrome
|
- Mitral valve prolapse
- Variable skeletal findings
- Relatively common disorder
- Aortic enlargement and ocular involvement of MFS are not findings
|
|
FBN-1 (Rarely)
|
