|Year : 2014 | Volume
| Issue : 2 | Page : 118-121
Oral-facial-digital syndrome type 1: Report of a case
Peter W Duda1, Steven R Singer2, Maxine Strickland2
1 Department of Diagnostic Sciences, Division of Oral Diagnosis, Newark, USA
2 Division of Oral and Maxillofacial Radiology, Newark, USA
|Date of Web Publication||16-Oct-2014|
Peter W Duda
Department of Diagnostic Sciences, No. D-860, Rutgers School of Dental Medicine, 110 Bergen Street, Newark, NJ 07101
Source of Support: None, Conflict of Interest: None
Oral-facial-digital syndrome (OFD) is a collective term describing thirteen distinctive, rare genetic disorders based on inheritance pattern and phenotypic expression. OFD is characterized by malformations of the oral cavity, the maxillofacial region and the arms and legs. Central nervous system anomalies, include intracerebral cysts, agenesis of the corpus callosum, hydrocephalus, cerebral/cerebellar atrophy, and berry aneurysms. Some degree of compromised intellectual ability and speech are present in affected individuals that correlate with the degree of central nervous system involvement. Furthermore, renal involvement in the form of polycystic kidney disease is evident in affected individuals in adulthood. In this article, we present a 37-year-old female patient that presented to the Rutgers School of Dental Medicine with oral-facial-digital syndrome, type 1.
Keywords: Cleft lip/palate, oral-facial-digital syndrome, oral-facial-digital syndrome, type 1
|How to cite this article:|
Duda PW, Singer SR, Strickland M. Oral-facial-digital syndrome type 1: Report of a case
. J Orofac Sci 2014;6:118-21
| Introduction|| |
Oral-facial-digital syndrome (OFD) is a form of ectodermal dysplasia affecting the development of the eyes, skin, nails, hair, oral cavity, face, fingers, and toes. , Central nervous system, cardiovascular, renal, and cutaneous abnormalities have been linked to this disorder. , In addition, depressed mental capacity, speech impediments, learning disabilities and seizures have been reported that directly correlate with the degree of central nervous system involvement. , Further, some cases reported malformation of the stapes leading to conduction deafness. This may play a role in developmental and intellectual deficiencies.  Until date, the literature reports thirteen different subtypes of OFD.  These subtypes can be distinguished from each other through the use of radiographs, clinical examination, and observation of the phenotypic gene expression and patterns of inheritance.  OFD, type 1 (OFD1) is also known as Papillon-League-Psuame syndrome is named after the two French dental practitioners that first discovered it in 1954. Gorlin, in 1961, suggested the name oro-facial-digital dysostosis. ,, OFD1 is an x-linked dominant trait that has the highest incidence when compared with the other subtypes, with prenatal mortality in homozygous males.  Conversely, males have been reported in the literature with this disorder with the XXY genome. , Many features of OFD1 overlap with the clinical manifestations of the remaining subtypes making diagnosis difficult.  OFD1 has an incidence of 1/50,000-250,000 live births.  Patients with this syndrome show a wide range of presentation due mainly to the different degrees of somatic mosaicism. ,, The most common oral features of OFD1 are clefting of the lip, palate and tongue, as well as highly arched palates, multiple tissue folds and hyperplastic frenula, alveolar ridge notching and thickening, lobulated tongue, supernumerary teeth, missing teeth, impacted teeth, retained deciduous teeth, enamel dysplasia, anterior open bite, maxillary and mandibular micrognathia, and malocclusion with posterior cross bite. , The face of an affected patient presents with asymmetry, wide set eyes, frontal bossing, broad nose with different size nostrils, hypoplasia of the malar bones, vanishing milia on the face and ears, low-set ears, and dry brittle hair with zones of alopecia.  Digital malformations of the hands and feet are syndactyly (fusion of digits), brachydactyly (shortened digits), clinodactyly (curved digits), and polydactyly (extra digits). 
| Case report|| |
Consent is on record at our school. A 37-year-old female presented to the dental clinic at Rutgers School of Dental Medicine in Newark, New Jersey USA with a chief complaint of "I want to fix the position and cavities in my teeth to improve my appearance." Upon review, the medical history was unremarkable. The patient was not taking any medications and denies any allergies. The extra-oral examination revealed frontal bossing, down-sloping forehead, broad nasal base, uneven nostrils, wide set eyes, low-set ears, flat midface, dry skin and coarse hair. Furthermore, bilateral camptodactyly or talipes (curling of the foot inwards with the toes pointing down) was evident, but photographs of the lower limbs were refused by the patient. The intraoral examination showed multiple resin restorations with recurrent caries, over-retained maxillary primary right canine, missing maxillary right permanent second premolar, missing maxillary left permanent second premolar, missing mandibular right permanent third molar, midline discrepancies, anterior and posterior cross bite, alveolar notching between no. 6-C, no. 21-22 and no. 26-27, fibrotic bands of frenula extending from the alveolar mucosa to the alveolar clefts and to the floor of the mouth, thickened alveolar ridges, a micrognathic maxilla, high arched palate with evidence of clefting, and mild lobulation of the tongue. The limited radiographic series revealed an impacted supernumerary tooth in the anterior right mandible, endodontic therapy on the maxillary right permanent lateral incisor. A full mouth radiographic series and a panoramic radiograph are indicated in this case for evaluation of impacted, supernumerary, congenitally missing teeth and maxillary and mandibular defects and pathology. In this case, a panoramic and full mouth radiographic series has been planned, but not completed. The patient did not display any evidence of conduction deafness or diminished intellectual capacity. The patient denied renal complications and stated that her recent physical examination was unremarkable. The patient admitted to medical consultations with a neurologist, nephrologist and a cardiologist by her primary care physician to evaluate the existence of systemic involvement. In this case, the patient did not have any systemic involvement. A clinical diagnosis of OFD1 was made, based on the characteristic dysmorphic features of the mouth, face and limbs. Definitive diagnosis for this subtype can be confirmed by karyotyping for the mutated OFD1 gene or the development of polycystic kidney disease in adulthood. The treatment planned for this patient includes stabilization of tooth no.7 with a cast post/core and provisional crown. Oral hygiene instructions, nutritional counseling, topical fluoride therapy and a dental prophylaxis are also planned. All carious lesions and restorations with recurrent caries are to be restored. Once all teeth and the periodontium are free from disease, the malocclusion and maxilla-mandibular incongruities will be addressed through orthodontic treatment, followed by the extraction of retained primary tooth no. C. Upon completion of orthodontics treatment, tooth no. 7 will be restored with a crown; the patient will be placed on a 6 months maintenance schedule.
| Discussion|| |
Oral-facial-digital syndrome, type 1 was first described by two French Dentists, E. Papillon-League and Jean Psuame in 1954. ,, This particular subtype has an incidence of 1/50,000-250,000 live births.  The gene responsible for this subtype is found on the short arm of the X chromosome and mutation analysis has identified the gene as CXORF5, which was renamed OFD. ,, This subtype appears to affect all races and ethnicities in equal numbers. ,, The pattern of inheritance is X-linked dominant with prenatal mortality in XY males.  Males reported in the literature with this subtype are either XXY males or have been misdiagnosed with another subtype.  In XY males, mutation of OFD1 gene on the X chromosome results in a total loss of OFD1 protein. In turn, OFD1 protein is critical in the early development of the brain, face, limbs, kidney, and other organogenesis. The absence of OFD1 protein disrupts normal growth and development of these structures and is inconsistent with life, resulting in spontaneous abortion. There is a wide degree of phenotypic variability within the subgroup because of somatic mosaicism. ,,, Reported extra oral findings consist of sloping forehead, frontal bossing, wide set eyes, low-set ears, broad nasal base, flattening of the nasal tip, uneven nostrils, narrow upper lip, flat midface, maxillary and mandibular micrognathia, dry skin with milia, brittle hair and alopecia. , Brachydactyly, clinodactyly, and syndactyly are common and present in varying degrees.  Campodactyly and talipes of the feet have not been reported in the literature, but present in the patient in this reported case. Reported intraoral findings include midline shifts and maxillary arch deficiencies [Figure 1]a, b, c.  enamel dysplasia, multiple resin restorations [Figure 1]d], constricted dental arches with crowding, high vaulted maxilla, cleft lip/palate, [Figure 1]e, lobulated tongue [Figure 1]f, alveolar clefting fibrous frenula, posterior crossbite [Figure 1]g, h, i, j, supernumerary teeth, missing teeth, impacted teeth, alveolar clefting, multiple resin restorations [Figure 1]i, j, k, l, The patient in this case study presented with some of these abnormalities, which is typically attributed to the phenotypic variability. Definitive diagnosis in this case study could be accomplished through genetic testing or the development of polycystic kidney disease later in adulthood. Management and treatment of patients with OFD1 varies depending upon, which signs and symptoms are present. Cleft lip/palate and limb incongruities require correction through plastic and reconstructive surgery. Along with these defects, individuals develop speech and hearing problems, requiring intervention with speech pathology and audiology. Those individuals undergoing surgical correction of limb deformities will require occupational and physical therapy. Central nervous system involvement will necessitate neurological testing in the control of seizure activity and special education/counseling for diminished mental capacity and learning issues. Medical intervention and screening are required to test and monitor for the development of polycystic kidney disease and cystosis of the pancreas, liver, and ovaries. Furthermore, individuals with facial disfigurements fall short of the socially accepted ideals of attractiveness. This in turn, stigmatizes these individual in society leading to psychosocial maladjustment and the need for psychological counseling. From a dental standpoint, individuals have high caries susceptibility, periodontal disease, malposed teeth and malocclusion. Management and treatment of OFD1 is dependent upon the severity of the phenotypic expression of the mutated OFD1 gene in females.
|Figure 1: (a) facial asymmetry and absence of right nasolabial fold, frontal bossing, downsloping forehead, broad nasal base, wide set eyes, low set ears, uneven nostrils, dry skin, and coarse hair. (b and c) fl at face, hypoplasia of the malar bones, micrognathia. (d) thickened alveolar ridges, multiple restorations with recurrent caries secondary to enamel hypoplasia. (e) high palatal vault with cleft, missing teeth no. 4 and no. 13, constriction of the dental arch. (f) slight lobulation of the tongue. (g and h) thickened tissue folds with hyperplastic frenula, malocclusion and cross-bite. (i) alveolar cleft between teeth no. C and no. 6. (j k and l) thickened alveolar ridge, clefts between no. 21-22 and no. 26-27, impacted supernumerary tooth|
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| Conclusion|| |
Oral-facial-digital syndrome, type 1 shows great variation in the phenotypic expression of abnormalities attributed to this subtype. Furthermore, many abnormalities overlap across the thirteen known subtypes. The confirmatory diagnosis for OFD1 is established at birth on the basis of oral, facial, digital, cutaneous abnormalities and patterns of inheritance. Genetic testing for the mutated OFD1 gene or development of polycystic kidney disease in adulthood confirms the diagnosis of OFD1. The aim of treatment for these individuals is multidisciplinary. Treatment involves surgical correction of craniofacial and digital abnormities. Orthodontics to correct malocclusion and maxilla-mandibular deficiencies, restorative dentistry to prevent, correct and maintain enamel dysplasia, therapy and counseling to deal with learning disabilities, medical personnel to monitor and treat systemic manifestations and audiologists to correct conductive hearing loss. All this goes into improving the individual's self-esteem so that they may lead normal and productive lives.
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