Dermatoglyphics and cheiloscopy in inheritance of oral clefts in North Indian population

Abstract

Introduction:

Cleft lip and palate (CLP) is one of the most common congenital malformations occurring in the craniofacial region. Causes of CLP can be attributed to the genetics and environmental factors. Potential advantages of prenatal diagnosis of oral cleft include psycho-social preparation, opportunity for parent education, planned neonatal care, anticipation on possible feeding problems, and increased reproductive awareness. Dermatoglyphic analysis and cheiloscopic analysis are now beginning to prove themselves as an extremely useful tool for preliminary investigations into conditions with a suspected genetic basis.

Materials and Methods:

The study consisted of two groups of 45 parents and siblings each of cleft lip with/without palate, CL (P)-affected children (group A) and normal children (group B). The study aimed to evaluate the inheritance of cleft lip and palate in North Indian patients using dermatoglyphics and cheiloscopy. Prints of all ten fingers were taken by the Ink method and recorded on white paper. Lip patterns were obtained by direct photography of the subjects in the natural head position.

Results:

Increased inter-digital asymmetry (with an increased score) was seen in mothers and fathers of group A. The loop pattern was seen more in the mothers, fathers, and siblings of group A. The Type O pattern was seen only in group A in only the fathers and mothers.

Conclusion:

A highly significant correlation was observed in finger prints and lip patterns in parents with CL (P)-affected children and hence can prove to be an extremely useful screening tool for CL(P) and other associated genetic anomalies.

INTRODUCTION

Cleft lip and palate (CLP) is one of the most common congenital malformations occurring in the craniofacial region, with differences in respect to parental ethnicity and geographic origin, gender of the fetus, and socio-economic status of the family. The overall prevalence of OFC is estimated to be approximately 1 in 700 live births, accounting for nearly one half of all craniofacial anomalies.[1] Prevalence has been found to vary based on ancestry, with the highest incidence rates observed among Asian populations (0.82–4.04 per 1000 live births), intermediate rates among Caucasians (0.9–2.69 per 1000 live births), and the lowest rates among African populations (0.18–1.67 per 1000 live births).[2,3,4,5] In India alone, the number of infants born every year with CLP is 28,600, which means 78 affected infants are born every day or three infants with clefts born every hour.[2] Male predominance has been consistently identified in CLP, with a male/female sex ratio of 1.81.[3] OFC may be unilateral or bilateral. The proportion of bilateral cases is 10.3% for cleft lip without palate (CL) and 30.2% for cleft lip with palate (CLP). Among unilateral cases, 36.9% of CL and 41.1% of CLP occur on the right side, suggesting that unilateral cases of CL/P occur more frequently on the left.[5]

CLP is known to have a multi-factorial inheritance and the role of genetic influences is well documented, although the environmental influences may have a bigger role in the etio-pathogenesis. The environmental influences can be many, ranging from known risk factors like maternal smoking and alcohol consumption, exposure to smoke leading to fetal hypoxia, nutritional deficiencies, medical illnesses, use of oral contraceptives, and certain medications, among other risk factors.[6,7]

Although not a major cause of mortality in developed countries, individuals with cleft lip and/or palate may experience problems with feeding, speech, hearing, and social integration that can be corrected to varying degrees by surgery, dental treatment, speech therapy, and psycho-social intervention.[8] All these features mean that this condition should be managed by a multi-disciplinary team whose members are in coordination with patients and their families.

Developments in ultrasound technology have enabled the identification of major facial anomalies as early as 12 weeks, at which time a search for associated defects can be made and plans for the performance of karyotyping by chorionic villus sampling or amniocentesis can be discussed.[6] An amniocentesis should be considered to aid in obstetric management when a facial cleft with associated anomalies is visualized ultrasonographically.[7]

The new era of research with many accepted studies in the past depicts that dermatoglyphics (the study of finger prints) and chelioscopy (the study of lip prints) can be key tools in decoding the genetic code of inheritance patterns in patients with cleft lip with and without cleft palate and isolated cleft palate.[9]

Dermatoglyphics is the study of dermal ridge counts and figures on the fingers, palms, and soles. Dermatoglyphics have long been recognized as sensitive indicators of intra-uterine damage due to environmental factors such as viral infections, medications, and alcohol abuse during early pregnancy, which are some of the contributing factors of development of CL/P.

Chelioscopy is the study of lip prints [i.e., wrinkles and grooves on the zone of transition of the lip between the inner labial mucosa (sulcus laborium) and outer skin]. Many studies have significantly proved their role in inheritance patterns, the correlation with blood groups, and CLP.[10,11,12,13,14,15]

Both dermatoglyphics and chelioscopy have proved their worth as key tools for the prediction of congenital disorders and their genetic basis. The aim of our study is to raise an alarm that these tools can claim a profound degree of accuracy in their ability to determine the involvement of genetic inheritance patterns in cleft lip with and without cleft palate and isolated cleft palate cases. Dermatoglyphics and cheiloscopy may be useful for early diagnosis, screening, genetic counseling, and the development of future preventive measures.

MATERIALS AND METHODS

The present study was conducted in the Department of Orthodontics and Dentofacial Orthopedics. The purpose of the study was to determine if parents of non-syndromic cleft lip and/or cleft palate CL(P) children display more dermatoglyphic asymmetry than parents of normal unaffected children and to study the various patterns of lip prints in parents of CL(P) children to detect if any specific pattern can be considered as a genetic marker in the transmission of CL(P) deformity. The study was a case-control study which included the collection of finger and lip print samples of 45 parents and siblings of the children affected with cleft lip and/or palate (group A) and 45 parents and siblings of unaffected children (group B). Ethical Committee number IEC/PA-004/2017, date of approval 08/11/2017.

The study included unaffected parents (father and mother) and siblings of children affected with cleft lip and/or cleft palate and unaffected parents of unaffected children; both the parents (father and mother) and siblings were considered in the study; there was no apparent inherited/congenital disease.

The study excluded single parents of the children affected with cleft lip and/or cleft palate and of normal children, parents with any injury or deformity in the lips, and parents with any injury or deformity in the digits.

The finger prints were acquired by using standard ink pads. The subject’s distal phalanx of each finger was rolled over gently on the stamp pad, and the procedure was repeated onto the white paper to record the finger print. Similarly, the distal phalanx of all ten digits was recorded, and analysis of the symmetry pattern between corresponding fingers on the right and left hands was observed.

Lip prints were recorded by direct photography under natural lighting using a DSLR camera. The photographs included only the lower third of the face focusing on the upper and lower lips.

The finger print patterns were classified according to Galton’s classification[16] into three groups [Figure 1]:

Figure 1.

Types of finger prints: (a) Arches, (b) Radial Loop, (c) Ulnar Loop, (d) Whorls

1. Arches: No delta is present

2. Loops: Presence of one delta. If the ridge opens in the radial side, then it is termed as radial loop, and if it is open on the ulnar side, it is termed as ulnar loop.

3. Whorls: Two deltas are present

The asymmetric score was calculated corresponding to the fingers of right and left hands. A score of ‘0’ was assigned if the patterns match between the fingers, and a score of ‘1’ was given if the patterns are not similar. Thus, for each individual, the dissimilarity score can range from 0 (when all five pairs of digits have identical patterns) to 5 (when all the five pairs of digits have different patterns).

The lips were divided into six topographical areas [Figure 2].

Figure 2.

Division of lips into 6 topographical areas

The lip patterns were studied using the classification given by Suzuki and Tsuchihashi[10] in 1970 [Figure 3]:

Figure 3.

Classification of lip prints

1. Type I: Complete straight grooves

2. Type II: Branched grooves

3. Type III: Intersected grooves

4. Type IV: Reticular grooves

5. Type V: Undifferentiated grooves.

The frequency of each type of lip print patterns in the six topographical areas was statistically correlated, and its percentage was estimated.

RESULT

Data entry and analysis was performed using SPSS 15.0 statistical software. The significant values were calculated using Chi-square test. The distribution of children affected by CL (P) whose parents were sampled in Group A to study dermatoglyphic and cheiloscopic peculiarities and described in Figure 4.

Figure 4.

The distribution of children affected by CL(P) whose parents were sampled in group A to study dermatoglyphic and cheiloscopic peculiarities

The chronological order of the birth of the cleft patients is described in Figure 5.

Figure 5.

Chronological order of birth of oral cleft patients

The asymmetry score in subjects of group A and B

By using Chi-square test, only fathers’ values are significant (P = 0.046).

There was more inter-digital asymmetry (with an increased score) seen in mothers and fathers of group A, that is, parents with children affected with CL (P) as compared to parents of group B who had a lesser asymmetry score. A greater asymmetry was found in the mothers (score 3) than in the fathers and siblings of group A when compared with group B. An asymmetric score of 5 was seen more in group A compared to group B [Table 1, Figure 6].

Table 1.

Asymmetry scores of finger prints in the group A and group B mothers, fathers, and siblings

Total score		Mothers				Fathers				Siblings
		Group A		Group B		Group A		Group B		Group A		Group B
0		4		12		9		15		15		9
1		7		13		7		14		13		18
2		13		10		12		11		9		12
3		14		6		7		3		5		4
4		4		3		8		1		1		2
5		3		1		2		1		2		0

Figure 6.

Bar diagram showing interdigital asymmetry in group A and group B

The individual comparison of ridge patterns of mothers, fathers, and siblings of groups A and B is as depicted in Table 2 and Figure 7.

Table 2.

Type of finger prints in the sample collected

Finger print pattern		Mothers				Fathers				Siblings
		Group A		Group B		Group A		Group B		Group A		Group B
Ulnar Loops		235		180		248		178		240		179
Radial Loops		2		0		0		0		0		0
Whorls		135		200		119		210		150		203
Arches		78		70		88		62		60		68

Figure 7.

Bar diagram showing the type of finger prints in the sample collected

This relation is found to be highly significant. The P value for the mothers was 0.005; for the fathers, it was 0.005, and for the siblings, it was 0.001. The ulnar loop pattern was seen more in the mothers, fathers, and siblings of group A, and the whorl pattern was seen more in the mothers, fathers, and siblings of group B.

A comparison of the fathers’ prints between the two groups was done. The incidence of the different types of lip prints according to the Suzuki and Tsuchihashi classification[16] in the six different quadrants and the new type (type O) have been tabulated [Table 3].

Table 3.

Comparison of fathers’ lip prints in two groups of subjects

		Type I				Type II				Type III				Type IV				Type V				Type O
		Group A		Group B		Group A		Group B		Group A		Group B		Group A		Group B		Group A		Group B		Group A		Group B
UR		21 (46.6%)		22 (48.8%)		15 (33.3%)		10 (22.2%)		8 (17.7%)		1 (2.2%)		1 (2.2%)		5 (11.1%)		1 (2.2%)		2 (4.4%)		0 (0%)		0 (0%)
UM		16 (35.5%)		15 (33.3%)		9 (20%)		8 (17.7%)		7 (15.5%)		6 (13.3%)		3 (6.6%)		4 (8.8%)		0 (0%)		9 (20%)		10 (22.2%)		0 (0%)
UL		15 (33.3%)		12 (26.6%)		19 (42.2%)		14 (31.1%)		8 (17.7%)		10 (22.2%)		1 (2.2%)		6 (13.3%)		1 (2.2%)		2 (4.4%)		0 (0%)		0 (0%)
LR		23 (51.1%)		19 (42.2%)		14 (31.1%)		12 (26.6%)		4 (8.8%)		7 (15.5%)		2 (4.4%)		3 (6.6%)		1 (2.2%)		4 (8.8%)		0 (0%)		0 (0%)
LM		30 (66.6%)		26 (57.7%)		5 (11.1%)		17 (37.7%)		4 (8.8%)		4 (8.8%)		3 (6.6%)		8 (17.7%)		0 (0%)		9 (20%)		4 (8.8%)		0 (0%)
LL		23 (51.1%)		21 (46.6%)		13 (28.8%)		12 (26.6%)		5 (11.1%)		4 (8.8%)		2 (4.4%)		1 (2.2%)		1 (2.2%)		6 (13.3%)		1 (2.2)		0 (0%)

Father

On comparing the lip prints of fathers in the two groups, it was seen that the Type I lip pattern was mostly seen in all the subjects. The Type O pattern was seen only in group A and was mostly seen in the upper middle lip region, followed by the lower middle and lower left regions. The presence of various lip patterns in fathers of group A is seen in the order Type I > Type II > Type III > Type IV > Type V > Type O, whereas in fathers of group B, the occurrence of lip print pattern was in the order Type I > Type II > Type III > Type V > Type IV > Type O. The P values for all the lip print types were suggestively significant.

Mother

On comparing the lip prints of mothers in the two groups, it was seen that the Type I lip pattern was mostly seen in all the subjects. The Type O pattern was seen only in group A and was mostly seen in the upper middle lip region, followed by the lower right and lower left regions. The presence of various lip patterns in mothers of group A is seen in the order Type I > Type II > Type IV > Type III > Type V > Type O, whereas in mothers of group B, the occurrence of lip print pattern was in the order Type II > Type I > Type IV > Type III > Type IV > Type O. The P values for all the lip print types were suggestively significant.

Siblings

On comparing the lip prints of siblings in the two groups, it was seen that the Type I lip pattern was mostly seen in all the subjects, followed by Type V pattern. Type O was not seen in both group A and group B. The presence of various lip patterns in siblings of group A is seen in the order Type I > Type V > Type II > Type IV > Type III > Type O, whereas in mothers of group B, the occurrence of lip print pattern was in the order Type I > Type V > Type II > Type IV > Type III > Type O. The P values for all the lip print types were suggestively significant.

DISCUSSION

Diagnosis of cleft lip and/or palate in utero is possible by ultrasound scanning from about the 9^th week of gestation, but some of these defects can be missed and false positive can be reported. Orofacial clefts are often not discovered until birth because this method can fail in the case of small CL/P.

Potential advantages of prenatal diagnosis of oral cleft include psycho-social preparation, opportunity for parent education, planned neonatal care, anticipation on possible feeding problems, and increased reproductive awareness, which can be maximally exploited.

Prediction of CL/P is considered a major advance in prevention of its occurrence or lowering its incidence than surgical repair. The epidermal ridges of the fingers and palms as well as the facial structures like the lip, alveolus, and palate are formed from the same embryonic tissues (ectoderm) during the same embryonic period (6–9 weeks). The resulting ridge configurations are genetically determined and are influenced or modified by environmental forces. This primary prevention may be aided by finding something in parents’ finger and lip prints directly related embryologically, anatomically, and/or genetically to the inheritance of the clefted lips to the offsprings.

Dermal ridge differentiation takes place early in fetal development. The resulting ridge configurations are genetically determined and are influenced and modified by environmental factors. Dermatoglyphics and cheiloscopy continue to play an important role in medical research and diagnostic investigations of various malformation, syndromes, and other congenital anomalies and disorders.

In this study, we found that there was a considerably higher amount of asymmetry in group A when compared to group B; the data obtained from the fathers were the most significant, and the data obtained from the siblings were the least significant (P value: fathers 0.046, mothers 0.061, and siblings 0.394). Thus, we can say that in families with occurrence of oral clefts, unaffected parents and siblings show a higher degree of pattern asymmetry.

In the present study, we saw that there was an increased asymmetry in the finger print pattern of the mothers when compared with the fathers of the cleft lip and/or palate-affected individuals. Mothers showed a higher asymmetry, that is, scores 3, 4, and 5 (21 mothers), compared to the fathers (17 fathers) of the children affected with cleft lip/and or palate. This finding has not been accounted in any other study conducted in this regard, and this opens an opportunity for further research in this context.

While assessing the finger print patterns, it was seen that in genetically susceptible parents of the affected individuals, there was an increased loop pattern and a decreased whorl and arch pattern, whereas in parents of normal, healthy children, a decreased whorl count was recorded.

On comparing the lip print patterns in the mothers of group A and group B, all the P values were suggestively significant [Table 4]. Type I lip print was mostly seen in the subjects, followed by Type II and Type IV and then by Type II and Type V. Group A showed decreased amounts of Type III and Type V lip print patterns compared to group B. Type O was the least presenting type but was seen only in the mothers of cleft lip and/or palate-affected individuals establishing a strong relationship with the inheritance of the oral clefts. Based on the data obtained in the present study, we see that the majority of the cases were not the first born offsprings [Table 5].

Table 4.

Comparison of mothers’ lip prints in two groups of subjects

Area		Type I				Type II				Type III				Type IV				Type V				Type O
		Group A (%)		Group B (%)		Group A (%)		Group B (%)		Group A (%)		Group B (%)		Group A (%)		Group B (%)		Group A (%)		Group B (%)		Group A (%)		Group B (%)
UR		22 (48.8)		14 (31.1)		10 (22.2)		13 (28.8)		4 (8.8)		6 (13.3)		6 (13.3)		6 (13.3)		1 (2.2)		1 (2.2)		0 (0)		0 (0)
UM		20 (44.4)		17 (37.7)		6 (13.3)		20 (44.4)		5 (11.1)		5 (11.1)		8 (17.7)		4 (8.8)		1 (2.2)		2 (4.4)		8 (17.7)		0 (0)
UL		22 (48.8)		13 (28.8)		11 (24.4)		16 (35.5)		4 (8.8)		4 (8.8)		8 (17.7)		5 (11.1)		1 (2.2)		2 (4.4)		0 (0)		0 (0)
LR		30 (66.6)		18 (40)		8 (17.7)		19 (42.2)		1 (2.2)		4 (8.8)		5 (11.1)		6 (13.3)		1 (2.2)		0 (0)		2 (4.4)		0 (0)
LM		28 (62.2)		19 (42.2)		7 (15.5)		18 (40)		1 (2.2)		6 (13.3)		6 (13.3)		8 (17.7)		1 (2.2)		2 (4.4)		0 (0)		0 (0)
LL		30 (66.6)		16 (35.5)		6 (13.3)		15 (33.3)		0 (0)		5 (11.1)		5 (11.1)		7 (15.5)		1 (2.2)		1 (2.2)		1 (2.2)		0 (0)

Table 5.

Comparison of siblings’ lip prints in two groups of subjects

Area		Type I				Type II				Type III				Type IV				Type V				Type O
		Group A		Group B		Group A		Group B		Group A		Group B		Group A		Group B		Group A		Group B		Group A		Group B
UR		20 (44.4%)		23 (51.1%)		10 (22.2%)		7 (15.5%)		1 (2.2%)		1 (2.2%)		1 (2.2%)		0 (0%)		12 (26.6%)		13 (28.8%)		0 (0%)		0 (0%)
UM		21 (46.6%)		24 (53.3%)		5 (11.1%)		8 (17.7%)		0 (0%)		0 (0%)		0 (0%)		2 (4.4%)		14 (31.1%)		12 (26.6%)		0 (0%)		0 (0%)
UL		18 (40%)		19 (42.2%)		8 (17.7%)		12 (26.6%)		1 (2.2%)		1 (2.2%)		0 (0%)		1 (2.2%)		11 (24.4%)		11 (24.4%)		0 (0%)		0 (0%)
LR		22 (48.8%)		18 (40%)		11 (24.4%)		9 (20%)		1 (2.2%)		0 (0%)		1 (2.2%)		0 (0%)		14 (31.1%)		16 (35.5%)		0 (0%)		0 (0%)
LM		24 (53.3%)		21 (46.6%)		9 (20%)		9 (20%)		0 (0%)		0 (0%)		0 (0%)		1 (2.2%)		17 (37.7%)		16 (35.5%)		0 (0%)		0 (0%)
LL		21 (46.6%)		20 (44.4%)		13 (28.8%)		8 (17.7%)		1 (2.2%)		1 (2.2%)		2 (4.4%)		0 (0%)		12 (26.6%)		11 (24.4%)		0 (0%)		0 (0%)

CONCLUSION

The present study was successful to establish the relation between the finger and lip prints with the oral clefts. Hence, this method can be used for screening and early diagnosis of oral clefts because of its simple, non-invasive, and cost-effective nature. This study suggests that primary healthcare professionals can be trained for the dermatoglyphic and cheiloscopic studies as they are not technique-sensitive to detect oral clefts in the genetically predisposed individuals at the primary healthcare level in the rural belts. The primary health worker can counsel the parents regarding problems associated with feeding, speech, and the maintenance of hygiene and prepare them for the future. The study also opens up a need for genetic counseling for the genetically predisposed parents. Though this study is limited by the sample size, the results may serve as preliminary data to explore the probable role of a field defect during the embryonic phase in children with isolated, non-familial CLP.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.