Know the Signs, Fight for Victory

ConditionSymptom Overlap with Marfan SyndromeDiscriminating FeaturesGene
Loeys-Dietz SyndromeAortic 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 dissectionMale predominance
Aortic stenosis can occur
Unknown
FTAAD with patent ductus arteriosus (PDA)Aortic enlargement and dissectionFrequent PDAMYH11
Arterial tortuosity syndrome (ATS)Aortic enlargement and dissectionGeneralized arterial tortuosity
Arterial stenosis
Facial dysmorphism
SLC2A10
Ectopia Lentis Syndrome (Dislocated Lens)Eye lens dislocation
Common skeletal findings
Aortic root dilation/aneurysms not foundFBN-1
LTBP2
ADAMTSL-4
Shprintzen-Goldberg SyndromeMitral 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 SyndromeSkeletal 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)
HomocystinuriaMitral 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 earInability 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 SyndromeMyopia 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 phenotypeMitral 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)