History and exam
Key diagnostic factors
common
presence of risk factors
Risk factors include the presence of a family history of Marfan syndrome, or of aortic dissection or aneurysm. There is also a weak association with high paternal age.[4]
tall stature
Typically associated with dolichostenomelia (unusually long limbs).
wide arm span
Arm span-to-height ratio >1.05.
high level of pubic bone
Pubic bone-to-height ratio >0.5.
high arched palate
May lead to dental crowding.
arachnodactyly
Long, slender fingers are a characteristic finding, confirmed by positive thumb and wrist signs.
positive wrist sign
Distal phalanges of the first and fifth digits of the hand overlap when wrapped around the other wrist.
positive thumb sign
When the patient bends the thumb toward the palm of the hand and covers it with the fingers, the tip of the thumb protrudes beyond the palm of the clenched hand. [Figure caption and citation for the preceding image starts]: Positive thumb signFrom the collection of LG Svensson, E Mendrinos, C Pournaras [Citation ends].
pectus excavatum (funnel chest)
Sternum sunk inwards.
pectus carinatum (pigeon breast)
Sternum pushed outwards.
scoliosis
Most commonly develops in childhood and adolescence with rapid growth.
Can affect any part of the spine and varies in severity and need for treatment.
flat feet (pes planus)
Due to ligament laxity.
dislocated/subluxed eye lens
Systematic investigation required if this diagnosis is considered.
Between 50% and 80% of patients have some degree of lens subluxation, which is usually bilateral and symmetrical.[21][22]
The direction of dislocation/subluxation is typically but not always superotemporal, whereas dislocation into the vitreous cavity or the anterior chamber is rare.
Other less frequent lens abnormalities are microspherophakia and lens coloboma.[23]
myopia and/or astigmatism
retinal abnormalities
Fundus examination is an important part of a thorough ophthalmic examination.
Retinal abnormalities include myopic posterior staphyloma, lattice degeneration, white-without-pressure, retinal pigmentary changes, atrophic holes or retinal tears, choroidal and scleral thinning.
The most serious complication is retinal detachment, which may be bilateral.[23]
joint hypermobility
Incidence of joint dislocation (apart from the patella) similar to that in the general population.
aortic valve murmur
Present in about one third of adults.
mitral valve murmur
Approximately one third of people have a non-ejection systolic click and about 10% have a regurgitation murmur.
history of treatment for dental crowding
Dental extraction or braces for dental crowding is a common requirement in people with Marfan syndrome, due to narrow jaw and high arched palate.
history of myopia and/or astigmatism
There may also be a history of other eye problems including strabismus, lens dislocation, cataract, glaucoma, or retinal detachment.
uncommon
reduced elbow extension
Extension of <170 degrees is one of the major skeletal features.[20]
Other diagnostic factors
common
glaucoma
Glaucoma affects approximately 30% of patients.[3] Primary open-angle glaucoma is the most prevalent form of glaucoma in these patients.
Secondary open-angle glaucoma may occur following chronic iritis.
Primary angle closure glaucoma has not been described in Marfan syndrome.
Pupillary block is rare and can be produced by an anterior lens dislocation.
Secondary angle closure may occur and is associated with congenital abnormalities of the irido-corneal angle.[23]
history of spontaneous pneumothorax
Affects approximately 10% of patients, usually pubertal males.
May be recurrent.
striae
Unrelated to pregnancy/weight change (usually on shoulder, lumbar area to mid-back, thighs, and around knees).
low back ache
Suggestive of spondylolisthesis or dural ectasia.
joint pain
Suggestive of arthritis.
Hips: due to protrusio acetabulae (adults).
Other joints: due to hypermobility, especially the knees, ankles, and wrists.
inguinal/abdominal/incisional hernias
May be recurrent.
uncommon
dyspnoea
Restrictive lung disease may be due to skeletal deformity.
May also be related to development of emphysematous bullae, spontaneous pneumothorax, fibrosis, or asthma.
signs of heart failure
Due to heart valve disease or cardiomyopathy.
Risk factors
strong
family history of Marfan syndrome
Inherited as an autosomal dominant condition in 75% of cases.[4]
There is a 50% risk of a child having Marfan syndrome if one parent is affected.
family history of aortic dissection or aneurysm
Regular echocardiogram monitoring is recommended for family members at risk.[2]
weak
high paternal age
Associated with spontaneous gene mutations, including those resulting in Marfan syndrome.[4]
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