Marfan's syndrome and homocystinuria are the two 
conditions to consider. Of these two, Marfan's syndrome
is the most common case you will encounter in the 
examination.

Mention you like to search other physical signs such 
as tall habitus, arm span longer than height, high-arched 
palate and kyphosclerosis. Ask to examine the eyes for 
lens subluxation. The patients may have aphakia due to 
lens extraction or dislocation.

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There are many conditions associated with polydactyly. However, only
Laurence-Moon's and Biedl-Bardet's Syndromes are likely to appear in
the examination. 

The extract digits may not be immediately apparent unless you count 
them. In some patients, the digits may have been amputated in childhood 
leaving behind only scar(s).

Mention that you would like to examine the fundi for any evidence of 
pigmentary retinopathy. The examination may be difficult due to a lack 
of cooperation as these patients may have associated mental handicap.

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The hands are large and the fingers are broad. The skin on the dorsum 
of the hands is thickened (demonstrated by gently pinching the skin).
The most likely case is acromegaly.

Mention that you like to examine the visual field of the patient for any 
evidence of bitemporal hemianopia. Also look for any optic atrophy 
which is classically described as bow-tie atrophy.

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The hands show symmetrical arthropathy, consisting of:
swelling of the phalangeal joints except the distal phalangeal 
joints (the swelling is caused by synovial swelling)

• Z-deformity of the thumb
• Boutonniere deformity
• swan neck deformity
• ulnar deviation of metacarpophalangeal joint
• volar subluxation of the palm

The muscle power may be weak due to compression of the
nerve or rupture of the tendon. The function of the hands 
such as writing and unbuttoning are usually good despite
the gross deformity.

Check for the following signs:

• rheumatoid nodules at the elbows
• scars at the wrist from operation for carpal 

tunnel syndrome
• associated ocular signs: such as dry eyes 

and scleromalacia perforans

The nails show pitting and onycholysis (lifting of the nail from
the nail bed). There are swellings of the joints involving the 
distal interphalangeal joint (contrast this with rheumatoid arthritis 
in which the distal phalangeal joints are not involved). Sometimes
the joint involvement may resemble that of rheumatoid arthritis. 
Rarely do you get arthritis mutilans (telescoping of phalanges). 
The function of the hands is usually good unless the joints are 
severely inflamed.

Check for the following signs:

• look for psoriatic plaques (which may not be apparent 

on the hands as in the picture here, they have well-defined 
edges with whitish scales) at the elbow, knees and behind 
the ears
• mention you would like to examine the eyes on the slit-lamp 

for anterior uveitis or signs of past inflammation such as 
pigments on the lens or posterior synechiae.

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