I - Sydney line [Fragile-X syndrome hand sign 4-2: LOR = +3.63]
II - Ridge line A: ends btw. finger 5 & heart line [Fragile-X syndrome hand sign 5-11: LOR = +3.44]
III - Triradius b: missing (or ridge line B is 'abortive') [Fragile-X syndrome hand sign 5-18: LOR = +3.32]
IV - Fingerprints: radial loop on thumb [Fragile-X syndrome hand sign 5-1: LOR = +3.28]
V - Ridge line C: 'abortive' [end close to triradius c] [Fragile-X syndrome hand sign 4-2: LOR = +3.22]
VI - Simian crease [Fragile-X syndrome hand sign 4-1: LOR = +3.08]
VII - Double-jointed thumbs [Fragile-X syndrome hand sign 7-1: LOR = +2.73]
VIII - Fingerprints: arch on ring finger [Fragile-X syndrome hand sign 5-5: LOR = +2.24]
IX - Fingerprints: arch on pinky finger (in males only) [Fragile-X syndrome hand sign 5-6: LOR = +2.14]
X - Palmar triradius d: missing [Fragile-X syndrome hand sign 5-20: LOR = +2.10]
This TOP 10 shows that dermatoglyphics in the upper half of the hand (palmar zone below the fingers + fingerprints) play a key-role in recognizing Fragile-X syndrome (see hand signs II, III, IV, V, VIII, IX & X); 4 of these hand signs relate to the palmar zone below the fingers and 3 of these hand signs relate to the fingerprints.
NOTICE: Log Odds Ratios are calculated from the prevalence (%) among Fragile-X syndrome patients & controls; more details are presented in the right column at the bottom of this page.
- 30 Hand Signs in Fragile-X Syndrome -
Fragile-X syndrome is a genetic disorder (often featured with a mental handicap and/or autism), caused by a defect in chromosome band Xq27.3.
The result of many studies indicate that there are various hand sign that can be described as 'typical' for Fragile-X syndrome [log odds ratio statistics are sometimes above 4.0].
The result of hundreds of studies show that various (combinations of) hand signs display the presence of this genetic disorder.
Important: quite some of the most significant hand signs relate to the palmar zone below the fingers + the fingerprints!
How to make a Palm Reading Assessment for FRAGILE-X SYNDROME?
Key-elements of the hand in Fragile-X syndrome in a nutshell: broad palm shape, hyperflexible fingers, palm & fingers display typical dermatoglyphics, unusual palmar creases (often featured with simian crease or Sydney line).
- Phantom picture for Fragile-X syndrome -
An advanced hand diagnosis for Fragile-X syndrome requires a person to have multiple significant hand markers that follow the MAJOR REQUIREMENT + the three additional requirements A, B & C as described below:
MAJOR REQUIREMENT: The person requires to have significant hand markers for Fragile-X syndrome in at least three dimensions of the hand
- ADDITIONAL REQUIREMENT A: The person requires to have four or more hand markers that relate to DERMATOGLYPHICS (= hand perspective 5)
- ADDITIONAL REQUIREMENT B: The person requires to have at least one hand marker that relates to the HANDSHAPE (= hand perspective 1) or FINGER MORPHOLOGY (= hand perspective 3).
- ADDITIONAL REQUIREMENT C: The person requires to have at least one hand marker in the palm + at least one hand marker in the fingers.
IMPORTANT: Only when all above REQUIREMENTS are fullfilled, then one can speak safely of 'confirmed' hand diagnosis for Fragile-X syndrome!
Some of the 29 significant hand markers for Fragile-X syndrome that are listed below became known in medical science as a 'physical minor anomaly' (such as the simian crease & the Sydney line).
But in general all these individual hand markers can usually be described as harmless body characteristics.
And even when 'constellations' of two or more of these hand markers are observed in one perspective of the hand, these hand markers should not be recognized as suspicious - UNLESS each of both hands display such constellations in 2 or more perspectives of the hand.
- List of 30 hand markers for Fragile-X syndrome -
Hand perspective 1 - HAND SHAPE:
1-1 - High hand index: palm width vs. hand length (ratio > 47 %);
1-2 - Short palm length vs. palm width (squarish shaped: ratio > 85 %).
Hand perspective 2 - FINGERNAILS:
- (No elements identified yet)
Hand perspective 3 - FINGER MORPHOLOGY:
3-1 - Finger length is long compared to palm length (ratio > 85 %);
3-2 - Finger length is short compared to palm width (ratio < 95 %);
3-3 - Incurved pinky finger (clinodactyly).
Hand perspective 4 - MAJOR LINES:
4-1 - Simian crease;
4-2 - Sydney line;
4-3 - Abnormally long heart line (extended distal transverse crease).
Hand perspective 5 - DERMATOGLYPHICS:
5-1 - Fingerprints: radial loop on thumb;
5-2 - Fingerprints: radial loop on index finger (both hands);
5-3 - Fingerprints: radial loop on middle finger;
5-4 - Fingerprints: arch on middle finger, but not on the index finger of the same hand;
5-5 - Fingerprints: arch on ring finger, but not on the index finger of the same hand;
5-6 - Fingerprints: arch on pinky finger, but not on the index finger of the same hand;
5-7 - Fingerprints: whorl on middle finger (both hands);
5-8 - Fingerprints: double loops on pinky finger;
5-9 - Fingerprints: high, small loops on various fingers;
5-10 - Palm: radial loop on mount of venus (thenar radial loop) + radial loop on at least one finger;
5-11 - Palm: in both hands ridge line A ends between pinky finger & heart line (ridge line A starts in triradius below index finger);
5-12 - Palm: ridge line A ends between index finger & middle finger (ridge line A starts in triradius below index finger);
5-13 - Palm: a-b ridge count summarized for both hands < 70 (ridge count between triradius below index finger & triradius below middle finger);
5-14 - Palm: ridge line B ends between middle finger & ring finger in both hands (ridge line B starts in triradius below middle finger);
5-15 - Palm: ridge line C ends between middle finger and middle finger, the a triradius, or at radial side of the palm (ridge line C starts below ring finger);
5-16 - Palm: ridge line C ends below ring finger (abbortive ridge line C);
5-17 - Palm: ridge line D ends at radial side of the palm (ridge line D starts in triradius below pinky);
5-18 - Palm: triradius b: missing (or palmar ridge line B is 'abortive');
5-19 - Palm: triradius below ring finger is missing in the left hand or both hands;
5-20 - Palm: triradius d below pinky finger is missing;
5-21 - Palm: 'empty hands' = absence of palmar loops/whorls;
5-22 - Palm: large areas with broken skin ridges (ridge dissociation / dysplasia).
5-23 - Palm: 'transverse' alignment of ridges over the distal palmar area
CONTRA-INDICATOR:
5-4 - Fingerprints: ulnar loop missing on index finger (both hands);
Hand perspective 6 - SKIN QUALITY:
6-1 - Skin: soft in palm + redundancy on dorsum.
A 'phantom picture' for Fragile-X syndrome is presented below that describes 27 hand characteristics + details about the prevalence of these hand markers in Fragile-X syndrome populations AND the general population!
Additionally, there are two case studies available:
Various studies around the world have proven that the simian line is a common hand characteristic in fragile-X syndrome.
But other studies have indicated that the simian line is also recognized as a common characteristic in other genetic syndromes (e.g. Down syndrome) - and one should also not forget that simian lines can also be observed in about 3% of the healthy population.
This raises the question: 'how can the simian line serve as a diagnostic marker specific for Fragile X syndrome?'
In 1986 A. Rodewald et al. presented the first 'phantom picture' describing the typical hand characteristics in Fragile-X syndrome (Xq27).
Combined with other sources, the author presents below an updated comprehensive 'phantom picture' for the most typical hand-characteristics in Fragile-X syndrome.
'Phantom picture' of the hand in Fragile-X syndrome: 28 typical characteristics.
During the 20th century quite a few studies have pointed out that in Fragile-X syndrome the simian line is often featured with a combination of other characteristics in 3 dimensions of the hand:
A - Hand lines (including: palms & fingers); B - Dermatoglyphics (including: fingerprints & palmar ridge patterns); C - Hand morphology (including: finger length & hand shape).
An overview of the details (see also the 'phantom picture' above):
HAND SHAPE & FRAGILE-X SYNDROME:
1-1 - High hand index: palm width vs. hand length (ratio > 47 %)
Prevalence: Fragile X patients: high (unknown %); controls: low (unknown %) 2
LOG ODDS RATIO: ? (unknown)
NOTICE: It is important to notice that palm shape is an age dependent characteristic (children have more square-shaped palms than adults). In Fragile X syndrome the handpalm is usually broad compared to palm length (ratio > 0.82 %), finger length (ratio > 1.03 %), and body length (ratio > 5.0 %); [Percentages are based on figures provided by the 'Handbook of Physical Measurements'].
1-2 - Short palm length vs. palm width (squarish shaped: ratio > 85 %)
Prevalence: Fragile X patients: high (unknown %); controls: low (unknown %) 2
LOG ODDS RATIO: ? (unknown)
NOTICE: It is important to notice that palm shape is an age dependent characteristic (children have more square-shaped palms than adults). In Fragile X syndrome the handpalm is usually broad compared to palm length (ratio > 0.82 %), finger length (ratio > 1.03 %), and body length (ratio > 5.0 %); [Percentages are based on figures provided by the 'Handbook of Physical Measurements'].
HAND SHAPE & FRAGILE-X SYNDROME:
3-1 - Finger length is long compared to palm length (ratio > 85 %)
Prevalence: Fragile X patients: high (unknown %); controls: low (unknown %) 2
LOG ODDS RATIO: ? (unknown)
NOTICE: It is important to notice that relative finger length is an age dependent characteristic (children have relatively shorter fingers than adults). In Fragile X syndrome the fingers are usually long compared to palm length (ratio > 45 %), short compared to palm width (ratio < 97 %), and slightly long compared to body length (ration > 4.9 %) [Percentages are based on figures provided by the 'Handbook of Physical Measurements'].
3-2 - Finger length is short compared to palm width (ratio < 95 %)
Prevalence: Fragile X patients: high (unknown %); controls: low (unknown %) 2
LOG ODDS RATIO: ? (unknown)
NOTICE: It is important to notice that relative finger length is an age dependent characteristic (children have relatively shorter fingers than adults). In Fragile X syndrome the fingers are usually long compared to palm length (ratio > 45 %), short compared to palm width (ratio < 97 %), and slightly long compared to body length (ration > 4.9 %) [Percentages are based on figures provided by the 'Handbook of Physical Measurements'].
3-3 - Incurved pinky finger (clinodactyly)
Prevalence: Fragile X patients: high (unknown %); controls: low (unknown %) ?
LOG ODDS RATIO: +3.08 (average for males & females)
NOTICE: Multiple studies 1,2 have indicated that especially an 'incomplete' simian line is very often observed in the hands of people with Fragile X syndrome - though one should also notice that an incomplete simian line is relatively common. L. Hirth et al. (1985)2 reported a percentage of 73% 'abberant simian creases' in a small sample of Fragile X carriers (N=15), versus 10% in controls (N=200).
LOG ODDS RATIO: +3.63 (average for males & females)
NOTICE: Multiple studies 1,2 have indicated that especially an 'incomplete' Sydney line is very often observed in the hands of people with Fragile X syndrome - though one should also notice that an incomplete Sydney line is relatively common. L. Hirth et al. (1985)2 reported a percentage of 60% 'abberant Sydney creases' in a small sample of Fragile X carriers (N=15), versus 9% in controls (N=200).
4-3 - Abnormally long heart line (extended distal transverse crease)
Prevalence: Fragile X patients - ? %; controls: ? %4
LOG ODDS RATIO: ?
B - HAND DERMATOGLYPHICS IN FRAGILE-X SYNDROME (3-24):
5-1 - Fingerprints: radial loop on thumb
Prevalence: Fragile X patients: 2.6 %; controls: 0 % 4
LOG ODDS RATIO: +3.28 (average for males & females)
NOTICE: A higher prevalence of radial loops on the 1th finger has been noticed in various studies1,4.
5-2 - Fingerprints: radial loop on index finger (both hands)
Prevalence: Fragile X patients - right hand 21.4 %, left hand 21.4 %; controls - right hand 6.3 %, left hand 12.0 %5
LOG ODDS RATIO: +0.99 (average for rigth & left hand)
NOTICE: A higher prevalence of a radial loop on the 3th finger has been noticed in various studies1,4,5.
5-3 - Fingerprints: radial loop on middle finger
LOG ODDS RATIO: +1.64 (average for males & females)
NOTICE: A higher prevalence of radial loops on the 3th finger has been noticed in various studies1,3,4.
5-4 - Fingerprints: arch on middle finger (in males only)
Prevalence: Fragile X patients - right hand: 17.3 %; left hand: 17.3 %; controls: 4.2 % and 5.3 % 1
LOG ODDS RATIO: +1.43 (average for right & left hand)
NOTICE: A higher prevalence of arches on the 3th finger has been noticed in various studies1,3,4,5.
5-5 - Fingerprints: arch on ring finger (in males only)
Prevalence: Fragile X patients - right hand: 5.1 %; left hand: 20.5 %; controls: 0.4 % and 2.8 % 4
LOG ODDS RATIO: +2.24 (average for right & left hand)
NOTICE: A higher prevalence of arches on the 4th finger has been noticed in various studies1,4,5.
5-6 - Fingerprints: arch on pinky finger (in males only)
Prevalence: Fragile X patients - right hand: 7.7 %; left hand: 5.1 %; controls: 0.6 % and 1.0 % 4
LOG ODDS RATIO: +2.14 (average for males & females)
NOTICE: A higher prevalence of arches on the 5th finger has been noticed in various studies1,4,5.
5-7 - Fingerprints: whorl on middle finger - in both hands
Prevalence: Fragile X patients - males: right hand 27.7 %, left hand 27.7 %; females: right hand 25.0 %, left hand 19.4 %; and controls - males: right hand 17.4 %, left hand 15.8 %; females: right hand 9.7 %, left hand 13.4% 3
LOG ODDS RATIO: +0.71 (average for both hands in males & females)
NOTICE: A higher prevalence of whorls on the 3th finger has been noticed in various studies3,4,5,6.
5-8 - Fingerprints: double loops on pinky finger
Prevalence: Fragile X patients - males: right hand 27.7 %, left hand 27.7 %; females: right hand 25.0 %, left hand 19.4 %; and controls - males: right hand 17.4 %, left hand 15.8 %; females: right hand 9.7 %, left hand 13.4% 3
LOG ODDS RATIO: ?
5-9 - Fingerprints: high, small loops on various fingers
Prevalence: Fragile X patients - males: right hand 27.7 %, left hand 27.7 %; females: right hand 25.0 %, left hand 19.4 %; and controls - males: right hand 17.4 %, left hand 15.8 %; females: right hand 9.7 %, left hand 13.4% 3
LOG ODDS RATIO: ?
5-10 - Palm: radial loop on mount of venus (thenar radial loop) + radial loop on at least one finger
Prevalence: Fragile X patients - ? % and controls - ? % 1
LOG ODDS RATIO: ?
5-11 - Palm: in both hands ridge line A ends between pinky finger & heart line (ridge line A starts in triradius below index finger)
LOG ODDS RATIO: +1.28 (average for males & females)
NOTICE: A higher prevalence of a low a-b ridge count has been noticed in various studies3,4.
5-14 - Palm: ridge line B ends between middle finger & ring finger in both hands (ridge line B starts in triradius below middle finger)
Prevalence - Fragile X patients: high (unknown %); controls: rare (unknown %) 1
LOG ODDS RATIO: ? (unknown)
5-15 - Palm: ridge line C ends between middle finger and middle finger, the a triradius, or at radial side of the palm (ridge line C starts below ring finger)
Prevalence: Fragile X patients - males: right hand 13.3 %, left hand 2.7 %; females: right hand 0 %, left hand 0 %; and controls - males: right hand 4.2 %, left hand 0.5 %; females: right hand 1.9 %, left hand 0 % 1
LOG ODDS RATIO: +0.91 (average for both hands in males & females)
5-16 - Palm: ridge line C ends below ring finger (abbortive ridge line C)
Prevalence: Fragile X patients - males: right hand 13.3 %, left hand 32.0 %; females: right hand 7.1 %, left hand 28.6 %; and controls - males: right hand 0.5 %, left hand 2.5 %; females: right hand 0.5 %, left hand 0.5% 1
LOG ODDS RATIO: +3.22 (average for both hands in males & females)
5-17 - Palm: ridge line D ends at radial side of the palm (ridge line D starts in triradius below pinky)
Prevalence: Fragile X patients - males: right hand 5.3 %, left hand 16.0 %; females: right hand 10.7 %, left hand 7.1 %; and controls - males: right hand 1.8 %, left hand 1.6 %; females: right hand 1.8 %, left hand 1.6 % 1
LOG ODDS RATIO: +1.83 (average for both hands in males & females)
5-22 - Palm: large areas with broken skin ridges (ridge dissociation / dysplasia)
Prevalence - Fragile X patients: high (unknown %); controls: low (unknown %) 1
LOG ODDS RATIO: ? (unknown)
NOTICE: Ridge dissociation concerns poor formation of the palmar ridges, resulting in skin ridge lines of which the direction is difficult to follow. In Fragile X syndrome ridge dissociation is a relatively common characteristic in both the palms and the fingerprints.
5-23 - Alignment of ridges over the distal palmar area: 'transverse'
Prevalence - Fragile X patients: high (unknown %); controls: low (unknown %)
LOG ODDS RATIO: ? (unknown)
NOTICE: In Fragile X syndrome the alignment of ridges over the distal palmar area is - partly due to the relatively short, broad hand shape - usually rather 'transverse' (horizontal). This is usually indicated by the combination of a 'palmar ridge line A' which exits the palm above (or just below) the heart line, combined with a 'palmar ridge line D' which exits the palm between the pointer finger and the middle finger.
LOG ODDS RATIO: -0.90 (average for males & females)
NOTICE: A lower prevalence of loops on the 2th finger has been noticed in various studies1,4,5.
HAND SKIN & FRAGILE-X SYNDROME:
6-1 - Skin: soft in palm + redundancy on dorsum
Prevalence: Fragile X patients: 22 %; controls: 4 % 9
LOG ODDS RATIO: ? (unknown)
NOTICE: It is important to notice that palm shape is an age dependent characteristic (children have more square-shaped palms than adults). In Fragile X syndrome the handpalm is usually broad compared to palm length (ratio > 0.82 %), finger length (ratio > 1.03 %), and body length (ratio > 5.0 %); [Percentages are based on figures provided by the 'Handbook of Physical Measurements'].
NOTICE: Hyperextensible finger joints are associated with a muscle condition named 'muscular hypotonia'. In fragile X syndrome it may manifest as: metacarpophalangeal extension to 90 degrees or more.
Large 'ridge breadth' (30), hand calluses (31), and possibly brachydactly (32) are a few other aspect that have been confirmed as significant of Fragile X syndrome (which can be understood in the perspective of the relative broad palm shape).
The author recognized that some significant hand characteristics for autism - such as: a low AtD angle (33), 'clinodactly' [curved 5th finger] (33), and 'low digit ratio' (35) - can also be expected to be featured with Fragile X syndrome.
And last but not least: Fragile X syndrome is also often featured with rather remarkable hand related behavior such as: hand flapping and hand biting.
SOURCES:
10) Dermatoglyphische Befunde bei Patienten mit Fragilem X-Chromosom im Rahmen ihres klinischen Bildes. E. Mόller, 1985
How to use the Simian Line in hand diagnostics for fragile-X syndrome?
It is important to notice here that not all hand characteristics are equally significant for recognizing fragile-X syndrome.
Specific indications for the significance of specific hand characterstics are provided by the prevalence of these hand characterstics in the control groups: the most significant hand characteristics are found in those which show a relatively large %-difference between the fragile-X patients and the control groups.
The following eleven hand characteristics have frequently shown a 10-times higher prevalence percentage in fragile-X groups (compared to the control group):
no.1, no.2, no.3, no.9, no.10, no.11, no.12, no.14, no.17, no.25, no.26.
So, these hand characteristics belong to the most 'significant' hand features for fragile-X syndrome!
The simian crease (1) is included, but the combination of: the broad, short palm shape; plus the fingerprints on the middle finger (and index finger); plus the progression of palmar line A and line C are probably the most the most significant hand zones to focuss on for recognizing fragile-X syndrome!
In general, if any hand presents a combination of multiple characterstics in EACH single of the 3 dimensions (hand lines, hand dermatoglyphics & hand shape), than it is very likely that the hand belongs to a person who has fragile-X syndrome.
For people who have the simian line in one hand (or both hands), one can determine the significance for fragile-X syndrome by studying the other hand characteristics.
Only when the hands are also featured with the following combination, one can make a hand-diagnosis for fragile-X syndrome:
- (1) mulitiple characteristics from dimension B (hand dermatoglyphics no.3 to no.24: combinations of both palm- and finger characteristics are required),
- (2) plus multiple characteristics from dimenion C (hand morphology no.25 to no.28: combinations of both palm- and finger characteristics are required),
So, if those people have a simian line in hand, they also need to have a 'wide' range of significant combinations - in both their palms AND their fingers - before one can speak of an thorough & complete 'hand diagnosis' for fragile-X syndrome!!!
Estimate: those people have a statistical chance of about 95% that a chromosomal test [= genetic testing] will reveal that they have 'fra(Xq27)'! (= the genetic disorder which is responsible for the manifestation of fragile-X syndrome).
What is in 2010 the state of knowledge about simian lines? ...more.
FINAL NOTIFICATION:
Below is an illustrative case - including high-resolution handprints - of a woman who has fragile-X syndrome.
HAND SIGNS & DIAGNOSTICS:
