|Year : 2011 | Volume
| Issue : 6 | Page : 83-86
Physical and dental manifestations of oral-facial-digital syndrome type I
A Tuli1, V Sachdev1, A Singh2, A Kumar1
1 Department of Pedodontics, Himachal Dental College, Mandi District, Himachal Pradesh, India
2 Department of Periodontics, Himachal Dental College, Mandi District, Himachal Pradesh, India
|Date of Web Publication||12-Dec-2011|
Department of Pedodontics and Preventive Dentistry, Himachal Dental College, Sunder Nagar, Mandi District, Himachal Pradesh - 174 401
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Oral-facial-digital (OFD) syndrome is the collective name of a group of rare inherited syndromes characterized by malformations of the face, oral cavity, hands and feet. OFD syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and dental abnormalities. The present article highlights the clinical as well as the radiographic findings and the treatment that was done of a 10-year-old girl child diagnosed with OFD I.
Keywords: Oral-facial-digital syndrome type I, Papillon-League-Psaume syndrome, dental treatment
|How to cite this article:|
Tuli A, Sachdev V, Singh A, Kumar A. Physical and dental manifestations of oral-facial-digital syndrome type I. J Indian Soc Pedod Prev Dent 2011;29, Suppl S1:83-6
|How to cite this URL:|
Tuli A, Sachdev V, Singh A, Kumar A. Physical and dental manifestations of oral-facial-digital syndrome type I. J Indian Soc Pedod Prev Dent [serial online] 2011 [cited 2020 Sep 22];29, Suppl S1:83-6. Available from: http://www.jisppd.com/text.asp?2011/29/6/83/90750
| Introduction|| |
Oral-facial-digital (OFD) syndrome type I, also known as the Papillon-League-Psaume syndrome, was first reported in 1954.  This syndrome is presently known as the orofaciodigital syndrome type I (OFD I) or orofaciodigital dysostosis. The gene responsible for the syndrome is found on the short arm of the X chromosome (Xp22.3-p22.2)  and mutation analysis has identified the gene as CXORF5, which was later renamed OFD I as the gene responsible for this disorder.  The prevalence of OFD type I varies in the literature reports. It is estimated to be between 1 out of 50,000 and 1 out of 250,000 live births.  It appears to affect all races and ethnicities in equal numbers. Almost all affected individuals are females, as male fetuses with the syndrome die before birth. 
The craniofacial features of this syndrome include frontal bossing, facial asymmetry, aplasia of alar cartilage, ocular hypertelorism, strabismus, downslanting palpebral fissures, broadened nasal bridge/root, cleft lip/palate, high arched palate, ankyloglossia, oligodontia, supernumerary teeth, hyperplastic frenula, and micrognathia. ,, Malformations of the hands are more common than those of the feet, and include syndactyly, brachydactyly and clinodactyly.  The affected children may have dry, brittle hair, patches of hair loss and whiteheads, followed by the onset of kidney disease in adulthood. 
| Case Report|| |
A 10-year-old female patient reported to Department of Pedodontics and Preventive Dentistry, Himachal Dental College, Sundernagar, Himachal Pradesh, India, for the correction of forwardly placed upper front teeth and pain in upper left back region of the mouth.
The medical history of the patient revealed that she was the first child of non-consanguineous parents. She was born with multiple phenotypic abnormalities like congenital facial clefts (bilateral incomplete oro-naso-ocular oblique cleft), bilateral epicanthal folds over the eyes, medial strabismus of both eyes, short upper lip, bilateral zygodactyls in hands (incomplete syndactyly occurring between the long and ring fingers) and incomplete bilateral syndactyly in between second and third toes of feet. She had undergone multiple major corrective surgeries during childhood. At the age of 4, 5 and 8 years, she had been operated for correction of strabismus, release of syndactility of fingers, correction of bilateral epicanthal fold with upper lip lengthening and augmentation.
On clinical examination, the patient's height and weight were normal for her age. She exhibited the typical craniofacial features consistent with OFD type I syndrome, including frontal bossing, zygomatic hypoplasia, downslanting palpebral fissures with scar marks on both sides of the nose, ocular hypertelorism, strabismus, broadened nasal bridge/root, incompetent lips [Figure 1], aplasia of alar cartilage, abnormal hair growth pattern on eyelashes and eye brows, and dry, curly and brittle hair pattern [Figure 2]. Examination of digits showed the presence of scars between third and fourth fingers of both hands and clinodactyly of the third and fourth fingers [Figure 3]. Incomplete bilateral syndactility was present between second and third toes of her feet [Figure 4]. Radiographs of both hands and feet showed that union was only epithelial and not skeletal.
|Figure 1: Preoperative view depicting frontal bossing, zygomatic hypoplasia, downslanting palpebral fissures with scar marks on both sides of the nose, ocular hypertelorism, strabismus, broadened nasal bridge/root, incompetent lips|
Click here to view
|Figure 2: Facial profile showing aplasia of alar cartilage and abnormal hair growth pattern on eyelashes and eye brows, and the hair pattern is dry, curly and brittle|
Click here to view
|Figure 3: Shows the presence of scars between third and fourth fingers of both hands and clinodactyly of the third and fourth fingers|
Click here to view
|Figure 4: Incomplete bilateral syndactility was present between second and third toes of her feet|
Click here to view
Intra-oral examination revealed that the patient had an anterior open bite, v-shaped maxillary arch, hyperplastic frenum attachments, two conical shaped teeth in the space of missing 11, 21, and one conical supernumerary tooth in the space between missing 31, 41 [Figure 5]. The patient also depicted the features of a geographic tongue [Figure 6] and had physiologic mobility with respect to 54, 64, 65, 75. Dental panoramic tomogram [Figure 7] revealed congenitally missing 11, 21, 31, 41. Dental caries was present with respect to 16, 54, 64, 65, 26, 46, 47. Molar relationship was Angle's class 1, and 36 had been extracted 1 year back due to caries. The patient also had the habit of tongue thrusting. The complete family history, medical history, clinical and radiographic examination led to the diagnosis of OFD syndrome type I.
|Figure 5: Intra-oral examination revealed that the patient had an anterior open bite, v-shaped maxillary arch, hyperplastic frenum attachments, two conical shaped teeth in the space of missing 11, 21, and one conical supernumerary tooth in the space between missing 31, 41|
Click here to view
|Figure 7: Dental panoramic tomogram revealing congenitally missing 11, 21, 31, 41. Dental caries was present with reference to 16, 54, 64, 65, 26, 46, 47|
Click here to view
Dental treatment consisted of extraction of 54, 64, 74, 65, 75, followed by restoration of 55, 85, 46, 47. Habit breaking appliance was given for tongue thrust habit. Composite buildup of supernumery teeth was done for esthetic reasons till the establishment of occlusion. Root canal treatment followed by stainless steel crown was completed for 16, and 26 was restored and covered by stainless steel crown [Figure 8]. After 8 months, the patient appears to be satisfied with her dental esthetics and has shown an improvement in her self-esteem and confidence [Figure 9]. Frenectomy of maxillary and mandibular labial frenums followed by fixed orthodontic appliance therapy is still to be completed as the patient is still on recall. Growth and development of the face and jaw will be monitored at regular intervals along with regular follow-up for assessment of speech, ear infections and serum creatinine concentration to monitor the renal function.
| Discussion|| |
The spectrum of the OFD syndrome has not yet been fully revealed, since each patient shows variations in the expression of the syndrome. The differential diagnosis includes the other OFD syndromes, oculodentodigital syndrome (ODD syndrome) in which similar craniofacial abnormalities are seen,  and hypohidrotic ectodermal dysplasia  which also shows clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and conical shaped anterior teeth. The confirmatory diagnosis of OFD I is established at birth in some infants on the basis of characteristic oral, facial, and digital anomalies; in other instances, the diagnosis is suspected only after polycystic kidney disease is identified in later childhood or adulthood. Molecular genetic testing or DNA-based diagnostics can confirm the presence of OFD I. The patient's male sibling, parents and relatives did not have any of these features, thus suggesting a mutant gene in this case. A multidisciplinary approach is necessary in the treatment of this syndrome. The aim of our therapy should be not only to treat the oral complaints of patient but also to provide a complete physical, mental, psychological rehabilitation of the patient so that he/she may lead a normal healthy life.
| References|| |
|1.||Papillon-Leage E, Psaume J. Une malformation héréditaire de la muqueuse buccale brides et les freins anormaux: Généralités. Revue de Stomatologie 1954;55:209-27. |
|2.||Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. The oral-facial-digital syndromes type I (OFDI), a cause of polycystic kidney disease and associated malformation, maps to Xp22.2-Xp22.3. Hum Mol Genet 1997;6:1163-7. |
|3.||Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001;68:569-76. |
|4.||Shaw M, Gilkes J, Nally FF. Oral facial digital syndrome -Case report and review of the literature. Br J Oral Surg 1981;19:142-7. |
|5.||Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in oral-facial-digital syndrome. J Paediatr 1967;71:94-100. |
|6.||Gorlin RJ, Psaume J. Orodigitofacial dysostosis-A new syndrome. J Paediatr 1962;61:520-30. |
|7.||King NM, Sanares AM. Oral-facial-digital syndrome, Type I. A case report. J Clin Dent 2002;26:211-5. |
|8.||Gillerot Y, Heimann M, Fourneau C, Verellen-Dumoulin C, Van Maldergem L. Oral-facial-digital syndrome type I in a newborn male. Am J Med Genet 1993;46:335-8. |
|9.||Harrod MJ. Polycystic kidney disease in a patient with the oral-facial-digital syndrome type I. Clin Gen 1976;9:183-6. |
|10.||Patton MA, Laurence KM. Three new cases of oculodentodigital (ODD) syndrome: Development of the facial phenotype. J Med Genet 1985;22:386-9. |
|11.||Karg lB, Alcan T, Kabalay U, Atasu M. Hypohidrotic ectodermal dysplasia: Dental, clinical, genetic and dermatoglyphic. J Clin Pediatr Dent 2001;26:61-4. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]
|This article has been cited by|
||Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type
| ||Rabah M. Shawky,Heba Salah Abd Elkhalek,Marwa M. Al-Fahham,Shaimaa Abdelsattar Mohammad,Shaimaa Gad |
| ||Egyptian Journal of Medical Human Genetics. 2014; |
|[Pubmed] | [DOI]|