27 Characteristics of the hand in Fragile X syndrome (Xq27).

Phantom picture of the hand in Fragile X syndrome!

In 1986 A. Rodewald et al. presented the first ‘phantom picture’ describing the typical hand characteristics in Fragile X syndrome (e.g. hand calluses & flexible finger phalange joints). But more detailed ‘phantom pictures’ were never presented since then. This month (february 2010) a more detailed updated version of the visualisation became available – featuring 28 characteristics of the hand in Fragile’s syndrome!

What are the most common hand characteristics in Fragile X syndrome?

HAND LINES:
A common characteristic is the presence of the famous ‘simian line‘; an alternative is the presence of a Sydney line.

DERMATOGLYPHICS:
Here one should especially notice the fingerprints of the 3rd finger (and the 2nd + 4th finger); often these demonstrate the presence of ‘radial loop’ patterns and/or arch patterns (the normal ‘ulnar loop’ patterns are less common in Fragile X syndrome) – combined with a ‘transverse’ pattern in the palmar ridge lines in the distal palmar zone.

HAND SHAPE:
The palm width (hand breadth) is relatively broad, and the palm length is usually a bit short. Finger length is relatively long compared to the palm length, but slightly short compared to the palm breadth.

NOTICE: The author of the new ‘phantom picture’ for Fragilex syndrome described a specific guideline which states that in most cases of Fragile X syndrome certain combinations of the 28 characteristics are found in both the fingers AND the palm of the hand!

More details available at:
How to use the famous ‘simian crease’ as a marker in Fragile X syndrome!

Photo: example of a baby hand with hyperextensible finger joints – a common feature in Fragile X syndrome.
Example of a baby hand with hyperextensible finger joints - a common feature in Fragile X syndrome.

27 Characteristics of the hand in Down syndrome (trisomy 21).

Phantom picture of the hand in Down syndrome!

In 1963 L.S. Penrose presented the first ‘phantom picture’ describing the typical hand characteristics in Down syndrome. More detailed ‘phantom pictures’ were presented by Schaumann & Alter (1976), Rodewald (1981). This month (2010) a more detailed updated version of the visualisation became available – featuring 27 characteristics of the hand in Down’s syndrome!

What are the most common hand characteristics in Down syndrome?

HAND LINES:
A common characteristic is the presence of the famous ‘simian line‘; an alternative is the presence of a Sydney line.

DERMATOGLYPHICS:
Here one should especially notice the hypothenar zone of the hand (in palmistry a.k.a. ‘mount of moon’); usually this zone a large ‘ulnar loop’ pattern combined with a high positioned palmar axial triradius.

HAND SHAPE:
Short fingers (thumb and pinky finger are often abnormally short) + a square shaped palm.

NOTICE: The author of the new ‘phantom picture’ for Down syndrome described a specific guideline which states that in all cases of Down syndrome certain combinations of the 27 characteristics are found in both the fingers AND the palm of the hand!

More details available at:
How to use the famous ‘single palmar crease’ (a.k.a. simian line) as a marker in hand diagnostics!

Photo: example of a baby hand in Down syndrome

Example of a baby hand in Down syndrome (trisomy 21).