Original Article

Published on 22 09 2011

N. Rajvikram, 1 R. Saravanan, 2 P. Vanathi, 3 K. T. Shanmugam 4 Syndromic Malocclusions

Abstract:

Author affiliations: A relatively small number of orthodontic patients are affected by known genetic

1 syndromes that affect oral structures. The greatest value in knowing that a patient has a MDS, Assistant professor, Department of Orthodontics, Thai particular syndrome is that it allows a much better prediction of future development in Moogambigai Dental College & the individual who will not grow in the normal pattern. Sometimes recognizing a Hospital, Chennai, Tamilnadu, India syndrome is made more difficult by incomplete expression of the genes. If a genetic 2 MDS, Reader, syndrome is suspected, then the orthodontist should have the patient evaluated. Department of Orthodontics, Thai Moogambigai Dental College & Hospital, Chennai, Tamilnadu, India 3 MDS, Reader, Introduction Department of Orthodontics, Thai Moogambigai Dental College & Hospital, Chennai, Tamilnadu, India Malocclusion associated with syndromes often needs a multi disciplinary 4 MDS, Assistant Professor, approach with orthodontists playing an important role in planning the overall Department of Oral & Maxillofacial treatment. This article highlights the following syndromes – Robin complex, Pathology, Sree Balaji Dental College & Hospital, Chennai, Treacher Collins, Cleidocranial and Crouzons syndrome. The Tamilnadu, India components of these syndromes and its clinical features are discussed with Corresponding author: special emphasis on the associated malocclusion.

Dr. N. Raj Vikram, MDS #35 Swarnambigai Nagar Syndrome Chozhan Street Virugambakkam, Chennai Tamilnadu, India An anamolad is a malformation together with its subsequently derived structural Email: [email protected] changes, the primary defect setting off a series of secondary or even tertiary Phone: +91 9884175007 events resulting in multiple anomalies. To cite this article:

N. Rajvikram, R. Saravanan, P. Syndrome is defined as a set of signs or a series of events occurring together that Vanathi, K. T. Shanmugam often point to a single disease or condition as a cause. Syndromic Malocclusions Syndromes occurring commonly with malocclusions are classified as: (Cohen, Virtual Journal of Orthodontics 1,2 [serial online] 2011 September, 9 (2) Proffit, Bell, White) [ ] Available at: http://www.vjo.it 1. Malformation syndromes associated with mandibular deficiency. 2. Malformation syndromes associated with mandibular prognathism. Virtual Journal of Orthodontics 3. Malformation syndromes associated with problems of facial height. Dir. Resp. Dr. Gabriele Floria 4. Malformation syndromes associated with facial asymmetry.

All rights reserved. Iscrizione CCIAA n° 31515/98 - © 1996 ISSN-1128-6547 NLM U. ID: 100963616 OCoLC: 40578647 Malformation syndromes associated with low recurrence risk in the family. mandibular deficiency: • Robin complex. Striking Features: Hypoplasia or the • Treacher Collins syndrome. arrested growth of mandible produce the (Mandibulo facial dysostosis; characteristic bird facies. Due to jaw Franceschetti syndrome) malformation the tongue musculature is • Nager acrofacial dysostosis. unsupported allowing it to fall down and • Wilder vanck Smith syndrome. back, partially obstructing the epiglottis • Goldenhar syndrome (hemifacial resulting in respiratory difficulty. Cleft palate microsomia) (Hypoplasia of mandible prevents the normal • Hallermann – Streiff syndrome. descent of tongue between the palatal shelves), Micrognathia and glossoptosis are Malformation syndromes associated with certain other features. Pierre Robin syndrome mandibular prognathism: can occur solely or in combination with other • Basal cell nevus syndrome (Gorlin syndromes like the Stickler syndrome, Goltz syndrome). cerebrocostomandibular syndrome, the • Klinefelter syndrome. camptomelic syndrome and the persistent left • . superior vena cava syndrome.

Malformation syndromes associated with Treacher Collins Syndrome (Mandibulo problems of facial height: Facial Dysostosis; Franceschetti • Beckwith Weidemann syndrome. Syndrome) [7,8]

Malformation associated with facial It involves the structures derived from the 1st asymmetry: branchial arch. • Hemifacial microsomia, goldenhar syndrome, hemifacial hypertrophy. Etiology: The Treacher Collins syndrome • Mobius syndrome. encompasses a group of closely related defects of the head and face, often hereditary Neurofibromatosis (von Recklinghausens or familial in pattern following an irregular disease): form of dominant transmission. ( Autosomal • Parry- Romberg syndrome. dominant ). The syndrome is thought to result • Crouzons syndrome. from a retardation or failure of differentiation • Aperts syndrome. of maxillary mesoderm at and after the 50 • Cleido cranial dysostosis. mm stage of the embryo. • Downs syndrome. • Pfeiffer syndrome. Striking Features: Symmetrically • Acrocephalosyndactyly. hypoplastic low set ears, depressed cheek , well developed external occipital Robin Complex [3,4,5,6] protuberance, down slanting palpebral fissures. Hypoplasia of mandible and facial Etiology: Heterogenous, considered a bones especially the molar bones resulting in sporadic or non genetic condition with a very large nose, macrostomia (failure of fusion of the maxillary and mandibular processes), Nothing is presently known of its micrognathia, sometimes cleft or high arched pathogenesis. palate, blind fistulas between the angles of the mouth and the angles of the ears are certain Clinical Features: The syndrome consists of features. The teeth may be hypo-plastic, severe micrognathia, cleft lip and/or palate, displaced, widely separated or associated with hypoplasia or aplasia of the postaxial open bite. elements of the limbs, coloboma of the eyelids and supernumerary nipples. Nager Acrofacial Dysostosis [9,10] Additional features of the syndrome include downward slanting palpebral fissures, malar It is a congenital anomaly syndrome that may hypoplasia, malformed ears and a broad nasal be characterized by accessory tragi. ridge. Other features include supernumerary vertebrae and other vertebral segmentation Etiology: Inheritance pattern said to be and defects, heart defects (patent ductus autosomal but there are arguments as to arteriosus, ventricular septal defect, ossium whether it is autosomal dominant or primum and endocardial cushion defect), lung autosomal recessive. disease from chronic infection, single umbilical artery, absence of the Striking Features: Underdevelopment of the hemidiaphragm, hypoplasia of the femora, cheek and jaw area, down-sloping of the ossification defects of the ischium and pubis, opening of the eyes, lack or absence of the bilobed tongue, lung hypoplasia and renal lower eyelashes, kidney and or stomach reflux. reflux, hammer toes, shortened soft palate, petite, lack of development of the internal and Goldenhar Syndrome (Hemifacial external ear, possible cleft palate, Microsomia) [13] underdevelopment or absence of the thumb, hearing loss and shortened forearms, as well It is associated with anomalous development as poor movement in the . Occasionally of the first branchial arch and second sufferers develop vertrebral anomalies such as branchial arch. . Nager syndrome is also linked to five other similar syndromes: Miller Etiology: The cause of Goldenhar syndrome Syndrome, Treacher-Collins, Pierre-Robin, is largely unknown. However, it is thought to Genee-Wiedemann, and Franceschetti- be multifactorial, although there may be a Zwahlen-Klein. genetic component, which would account for certain familial patterns. It has been suggested Wilder Vanck Smith Syndrome [11,12] that there is a branchial arch development issue late in the first trimester. This condition is also known as the Genee- Wiedemann syndrome, Miller syndrome or Clinical Features: It is a rare congenital Postaxial Acrofacial Dystosis (POADS). defect characterized by incomplete development of the ear, nose, soft palate, lip, Etiology: The incidence of this condition is and mandible on usually one side of the body. not known but it is considered extremely rare. Additionally, some patients will have growing issues with internal organs, especially heart, cerebri, distinct faces - frontal and kidneys, and lungs. Typically, the organ will temporopariental bossing, , and either not be present on one side or will be mandibular prognathism. underdeveloped. Klinefelter Syndrome [17] Hallermann – Streiff Syndrome [14] Etiology: Klinefelter syndrome is a It also known as the François Dyscephalic chromosomal condition that affects male Syndrome, Hallermann-Streiff-François sexual development. Most males with syndrome, Oculomandibulodyscephaly with Klinefelter syndrome have one extra copy of hypotrichosis and Oculomandibulofacial the X chromosome in each cell. Variants of syndrome. Klinefelter syndrome involve more than one extra X chromosome or extra copies of both Etiology: It is a congenital disorder the X and Y chromosomes in each cell. associated with gene GJA1. Clinical Features: Abnormal body Clinical Features: It affects growth, cranial proportions (long legs, short trunk, development, hair growth and dental equal to size), abnormally large breasts development. Patients with this syndrome are (gynecomastia), prognathic mandible, shorter than the average person and may not infertility, sexual problems, less than normal develop hair in many places, including in the amount of pubic, armpit, and facial hair, small facial, leg and pubic areas. Patients also have and firm testicles, tall height. eye problems including clouded eyes or reduced eye size, bilateral cataracts and Marfan Syndrome [18,19] glaucoma. It can be associated with sleep apnea. It can complicate intubation. Etiology: It is a genetic disorder of the connective tissue. It is inherited as a dominant Gorlin Goltz Syndrome (Basal Cell Nevus trait. It is carried by a gene called FBN1, Syndrome) [15, 16] which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Etiology: It is an autosomal dominant Because it is dominant, people who have condition. It is caused by mutations in the inherited one affected FBN1 gene from either PTCH (Patched) gene found on chromosome parent will have Marfan's. 9q. Clinical Features: People with Marfan's tend Clinical Features: Multiple basal cell to be unusually tall, with long limbs and long, carcinomas of the skin, Odontogenic thin fingers, the dislocated lenses and the keratocyst- Seen in 75% of patients and is the aortic root dilation. The general features are most common finding. There are usually aortic aneurysm or dilation, , multiple lesions found in the mandible, rib GERD, bicuspid aortic valve, cysts, cystic and vertebrae anomalies, Intracranial medial necrosis, degenerative disk disease, calcification, skeletal abnormalities: bifid deviated septum, dural ectasia, early , kyphoscoliosis, early calcification of falx cataracts, early glaucoma, early osteoarthritis, ectopia lentis, emphysema, eye iris coloboma, leading to Möbius syndrome might occur. , above-average height, heart Most cases do not appear to be genetic. palpitations [Hernias, high palate, However, genetic links have been found in a of the joints, few families. Some maternal trauma may (hunched back), leaky heart valve, result in impaired or interrupted blood flow malocclusion, micrognathia (small lower (ischemia) or lack of oxygen (hypoxia) to a jaw), mitral valve prolapse, myopia (near developing fetus. Some cases are associated sightedness), obstructive lung disease, with reciprocal translocation between osteopenia (low density), pectus chromosomes or maternal illness. In the carinatum or excavatum, pneumothorax majority of cases of Möbius syndrome in (collapsed lung), retinal detachment, which autosomal dominant inheritance is scoliosis, sleep apnea, stretch marks not from suspected, sixth and seventh cranial nerve pregnancy or obesity, teeth crowded, narrow, paralysis (palsy) occurs without associated thin face, temporomandibular joint disorder limb abnormalities. (TMD). Clinical Features: Möbius syndrome results Beckwith Wiedemann Syndrome [20, 21] from the underdevelopment of the VI and VII cranial nerves. The VI cranial nerve controls Etiology: It is an overgrowth disorder present lateral eye movement, and the VII cranial at birth. Most cases are sporadic, meaning nerve controls facial expression. People with that usually no one else in that family has this Möbius syndrome are born with facial syndrome. It has been shown to specifically paralysis and the inability to move their eyes involve problems with a defined region on the laterally. Often, the upper lip is retracted due short arm of chromosome 11. It can be caused to muscle shrinkage. Occasionally, the cranial by a range of different genetic defects. nerves V and VIII are affected. If cranial VIII is affected, the person experiences hearing Clinical Features: Congenital hernia, large loss. Other symptoms that sometimes occur tongue - macroglossia, and large body (and/or with Möbius syndrome are limb abnormalities long limbs) – gigantism, increased facial - clubbed feet, missing fingers or toes, chest- height, macrosomia, midline abdominal wall wall abnormalities (), defects (omphalocele, umbilical hernia, crossed eyes (strabismus), difficulty in diastasis recti), ear creases or ear pits, and breathing and/or in swallowing, corneal neonatal hypoglycemia (low blood sugar after erosion resulting from difficulty in blinking. birth). Neurofibromatosis (Von Recklinghausens Möbius Syndrome [22, 23] Disease) [24]

Etiology: The causes of Möbius syndrome Etiology: It is a genetically-inherited are poorly understood. Möbius syndrome is disorder. It is an Neurofibromatosis is an thought to result from a vascular disruption autosomal dominant disorder. (temporary loss of blood flow) in the brain Neurofibromatosis are classified into type I during prenatal development. There could be and II. many reasons that a vascular disruption Clinical Features: Neurofibromas, freckling also seen. of the groin, café au lait spots, skeletal abnormalities, tumors on optic nerve, Aperts Syndrome [30, 31] , epilepsy, headache, facial paralysis, facial weakness, deafness. Etiology: Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder. Parry- Romberg Yyndrome [25, 26, 27] It is a autosomal dominant disorder. However research is yet to determine an exact cause. It also known as progressive hemifacial atrophy. Clinical Features: It is characterized by malformations of the skull, face, hands and Etiology: It is a rare, incurable craniofacial feetThe cranial malformations are the most disorder. apparent effects. Cranialsynostosis occurs, with brachiocephaly being the common Striking Features: It is slowly progressive pattern of growth. Another common degeneration (atrophy) of the soft tissues of characteristic is a high, prominent forehead half of the face. There may be changes in with a flat posterior skull. A flat or concave eyes and hair, neurological abnormalities, face may develop as a result of deficient trigeminal neuralgia. growth in the mid-facial bones, leading to a conditir prognathism. Crouzons Syndrome [28, 29] Cleido Cranial Dysostosis [32] The syndromes constitute a group of conditions each characterized by Etiology: Most cases are sporadic, few premature craniosynostosis (closure of cranial familial instances in which transmitted as sutures) occurring in association with a autosomal dominant. variety of other abnormalities. Clinical Features: Marked abnormalities in Etiology: Majority of cases have followed an skull, and jaws. autosomal dominant trait. Abnormalities of the skull characterized by marked frontal, parietal and occipital bossing, Clinical Features: The premature closure of delayed closure of fontanels and sutures are cranial sutures leads to (short evident. The skull will be large and short. head) with a large frontal bony swelling. The The clavicle may be unilaterally or bilaterally affected patients shows exophthalmos, totally aplastic which gives the patient a long hypertelorism, hypoplasia of the maxilla, neck and narrow appearance. The mental retardation and nose resembling shoulder movements permitted by this defect parrot’s beak. Underdevelopment of the is very remarkable, frequently allowing the maxilla is more severe in the premaxillary individual to approximate his shoulders in area, cause crowding of teeth and V shape to front the chest. Patient with cleido cranial the arch. Cross bite or open bite with either dysostosis characteristically exhibit a high high narrow arched palate or complete cleft narrow arched palate or complete palatal cleft palate, bifid uvula and partial anodontia are involving both hard and soft tissues. Numerous supernumerary teeth, • Surgeons underdeveloped maxilla and delayed or • Prosthetists failure in eruption of both deciduous and • Speech therapists permanent teeth are also noticed. • Pediatricians • Orthodontists Downs Syndrome [33, 34] It is important for us to recognize the common syndromes enumerated above in Etiology: Down's syndrome or trisomy 21, is order to bring about effective treatment which a chromosomal condition caused by the would benefit the society. presence of all or part of an extra 21st chromosome. Orthodontists intervention consists of: 1. Aligning of teeth Clinical Features: Mental retardation, 2. Management of cleft stunted growth, atypical fingerprints, 3. Functional shift management separation of the abdominal muscles, flexible a) Occlusal adjustment (minor , hypotonia, brachycephaly, smaller deviation), genitalia, eyelid crease, eyelid crease, oval b) Arch coordination using fixed palate, low-set and rounded ear, small teeth, appliance flattened nose, , umbilical hernia, c) Occlusal splints / orthopedic short neck, shortened hands, congenital heart appliances – to eliminate habitual disease, single transverse palmar crease, posturing and De- programming the Macroglossia (larger tongue), microgenia, skeletal musculature epicanthal fold, Strabismus, Brushfield spots d) Skeletal asymmetry – RME, (iris). Orthognathic surgery 4. Dis-impaction of teeth Pfiffer Syndrome [35, 36] 5. Distraction for mandibular hypoplasia with appropriate pre and post Etiology: It is a rare genetic disorder. distraction orthodontics.

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