orofacialsyndromes in dentistry and its effects.

Orofacialsyndromes in dentistry

1. OROFACIAL
SYNDROMES
PART I
R.K.HARITHA
BDS CRI
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2. CONTENTS
•Introduction
•Understanding genetics
•Orofacial digital syndrome
•Hurler syndrome
•Hunter syndrome
•Parry Romberg syndrome
•Beckwith wiedemansyndrome
•Jaffe lichensteinsyndrome
•McCune Albright syndrome
•Mazabraudssyndrome
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3. Introduction
SYNDROME
•A group of symptoms that collectively
indicate or characterize a disease,
psychological disorder, or other
abnormal condition.
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4. UNDERSTANDING
GENETICS
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7. OROFACIAL
DIGITAL
SYNDROME
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8. Types of
orofacial
digital
syndrome
•OFDS Type I (Papillon-Leage-PsaumeSyndrome)
•OFDS Type II (Mohr Syndrome)
•OFDS Type III (SugarmanSyndrome)
•OFDS Type IV (Baraitser-Burn Syndrome)
•OFDS Type V (Thurston Syndrome)
•OFDS Type VI (VaradiSyndrome)
•OFDS Type VII (Whelan Syndrome)
•OFDS Type VIII (Edwards Syndrome)
•OFDS Type IX (OFD Syndrome with Retinal
Abnormalities)
•OFDS Type X (OFD with Fibular Aplasia)
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9. Type of
inheritance
of gene
mutations
•X-Linked Dominant
–OFDS type I
–OFDS type VII
•X-Linked Recessive
–OFDS type VIII
•Autosomal Dominant
–OFDS type VII
•Autosomal Recessive
–OFDS type II
–OFDS type III
–OFDS type IV
–OFDS type V
–OFDS type VI
–OFDS type IX
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10. Signs &
symptoms
•Face and skin: Hypertelorism, strabismus, alopecia
•Oral cavity: Cleft lip, cleft palate, lobed or split tongue,
tumorsof the tongue, extra or missing teeth,
mandibular hypoplasia
•Facial features:Small and/or wideset eyes, a groove or
hole in part of the structure of the eye, broad nose, one
nostril smaller than the other, angled ears
•Digital features: Extra digits, unusually short fingers,
webbed toes and/or fingers, clubfoot,rigid, bent
fingers
•Intellectual and central nervous system (CNS)
development
•Other:Growth retardation, heart malfunctioning,
kidney malfunctioning, sunken chest, vulnerability to
respiratory infection
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11. OFDS type
I disease
(Papillon-
Leage-
Psaume
syndrome)
•Coarse thin hair
•Grainy skin lesions
•Unilateral polysyndactyly
•Polycystic kidney disease
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12. OFDS type II
disease
(Mohr
syndrome)
OFDS type
III
(Sugarman
syndrome)
•Polydactyly
•PKD -very rare
•Polydactyly
•Epilepsy-like myoclonic jerks
•Profound mental retardation
•“Jaw winking”
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13. OFDS type IV
(Baraister-Burn
syndrome)
OFDS type V
(Thurston
syndrome)
•Short tibias
•Person’s chest may be depressed.
•Midline cleft lip
•Polydactyly.
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14. OFDS type
VI (Varadi
syndrome)
OFDS type
VII (Whelan
syndrome)
•Polydactyly of the toes and fingers (central
polydactyly)
•The kidney may be smaller than normal or even absent
•Kidney abnormalities
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15. OFDS type IX
(OFD syndrome
with retinal
abnormalities)
OFDS type X
(OFD with
fibular aplasia)
•Abnormal development of the retina
•Short stature
•Nodules on the tongue
•Cleft palate and an abnormally inflexible epiglottis
•Radial shortening
•Agenesis of the fibula
•Psychomotor retardation
•Growths on the tongue and tooth malformations.
•Abnormalities of the eye such as “seesaw winking”
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16. MUCOPOLYSACCHARIDOSIS
Absence or malfunctioning of
lysosomal enzymes needed
to breakdown molecules
called glycosaminoglycans
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17. Types
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18. HURLER’S
SYNDROME
Hurlersyndromeis the most severe form of
mucopolysaccharidosis type 1, a rare lysosomal storage disease,
characterized by skeletal abnormalities, cognitive impairment,
heart disease, respiratory problems, enlarged liver and spleen,
characteristic faciesand reduced life expectancy.
Mutationsin theIDUAgene(4p16.3)
complete deficiency in the alpha-
L-iduronidaseenzymeand
lysosomal accumulation of
dermatan sulfateand heparan
sulfate.
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19. Clinical
features
•Musculoskeletal alterations includingshort stature,
dysostosismultiplex, thoracic-lumbar kyphosis,
progressive coarsening of the facial
features,cardiomyopathyand valvularabnormalities,
neurosensorialhearing loss, enlarged tonsils and
adenoids, and nasal secretion.
•Developmental delay
•Hydrocephaly
•Diffuse corneal compromise leading to corneal opacity
becomes detectable from three years of age onwards.
•Other -organomegaly, hernias and hirsutism.
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21. HUNTER
SYNDROME
X-linked recessiveinheritance
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22. Etiology
•Deficiency of thelysosomal enzymeiduronate-2-
sulfatase(I2S) accumulation of heparansulfate
anddermatan sulfate.
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23. Signs &
symptoms
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24. Mangement
•ENZYME REPLACEMENT THERAPY
•Enzyme replacement therapy (ERT) uses an intravenous solution
(IV) to replace a deficient or missing enzyme in the body.
•ERT does not cure the disease but slows its progress by
increasing the amount of missing enzyme in the body.
•Enzyme replacement therapy is currently available for five MPS
disordersMPS I,MPS II,MPS IVA,MPS VIandMPS VII
•HEMATOPIETIC STEM CELL TRANSPLANT
•HSCT is a blood stem cell transplant.
•Possible sources of blood stem cells include bone marrow,
peripheral blood and umbilical cord blood.
•Severe MPS I, MPS VI, MPS VII
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25. PARRY
ROMBERG
SYNDROME
•Hemifacialatrophy (HFA)
•Progressive facial hemiatrophy
•Progressive hemifacialatrophy
•Romberg syndrome
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26. Etiology •Development or inflammation of the sympathetic
nervous system
•Viral infections
•Meningoencephalitis
•Trauma
•Angiogenesis
•Autoimmunity.
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27. Pathogenesis
•Inflammation in the nerves that supply skin and fat 
Autoantibodies Autoimmune reaction
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28. Signs &
symptoms
•Facial atrophy
•Linear scleroderma “encoup de sabre”
•Others -
–Rarely abnormalities of an ear
–Arm, trunk and legs (ipsilateral orcontralateral).
–Effect in hair -alopecia, absence of eyelashes, and
absence of the middle portion of the eyebrow, blanching
of hair
–Migraine headaches
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29. Oral
manifestations
•Hemiatrophyof the upper lip, tongue.
•Mandible prone to spontaneous fracture
•Mouth and nose may sometimes deviate towards the
affected side
•Hemi-masticatory spasm or trismus
•Malocclusion
•Delayed eruption
•Atrophic roots
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30. BECKWITH-
WIEDEMANN
SYNDROME
Itis a rare congenital overgrowth disorder withmacroglossiabeing
one of the cardinal symptoms.
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31. Signs &
symptoms
•Abnormally increased birth height and weight
•Overgrowth on one side of the body, known as
hemihyperplasia
•Hypoglycemia& Hyperinsulinism
•Abnormalities in the abdominal wall like a hernia or
omphalocele
•Large abdominal organs like the kidney and liver
•Kidney changes
•Distinctive grooves or pits in the earlobesor the area
behind the ears
•Increased risk of cancer, especially in childhood
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32. Macroglossiain
Beckwith-widemann
syndrome
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33. Managemen
t
•Monitoring of blood sugar in infants with suspected
BWS-Intravenous treatments
•Surgical repair of the abdominal wall
•Surgery to reduce tongue size if it interferes with
feeding or breathing
•Routine tumorscreenings via blood tests
andultrasounds of the abdomen
•Screening and management of scoliosis
•Orthopedicsurgery
•Therapeutic interventions like speech, physical, or
occupational therapy if strength, mobility, daily
activities, or speech is impaired
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34. FIBROUS
DYSPLASIA
“ A benign, self limiting, nonencapsulatedlesion occurring mainly in
maxilla, & showing replacement of normal bone by a cellular
fibrous tissue containing islands or trabeculae of metaplastic bone”
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35. Classification
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36. GNAS 1
mutation
(overproductio
n of cAMP) 
Hyperfunction
of cells &
organs
•Undifferentiated stem cells –multiple bone lesions,
cutaneous pigmentation, endocrine disturbances
•Late embryonic life –multiple bone lesions
•Postnatal –monostoticfibrous dysplasia
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37. JAFFE-
LICHENSTEIN
SYNDROME
Polyostostic fibrous dysplasia with café au lait
pigmentation
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38. Signs &
symptoms
•Bone cyst
•Facial bone pain, swelling & tenderness
•Fractures
•Leontiasis osseaappearance
•Long bone pain, swelling& tenderness
•Rib pain, swelling & tenderness
•Scoliosis
•Skull pain, swelling& tenderness
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39. MCCUNE
ALBRIGHT
SYNDROME
Polyostotic fibrous dysplasia + café au laitpigmentation+
precocious puberty + other endocrinal abnormalities
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40. Signs &
symptoms
•Replacement of bone with fibrous tissue may lead to
fractures, uneven growth, and deformity.
•Asymmetry of skull, long bones, limping
•Scoliosis
•Shephardhook deformity
•Café au laitspots (Coast of maine)
•Precocious puberty as early as 2 years
•Thyroid –Goitre, hyperthyroidism
•Pituitary gland –acromegaly, coarse facial features
•Adrenal gland –Cushing’s syndrome
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41. Oral
manifestations
•Malalignment
•Tipping
•Displacement
•Delayed eruption
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42. Management
•Skeletal abnormalities
•Surgical management
•Bisphosphonates
•Denosumab-reduce bone pain and decrease tumor
growth.
•Muscle strengthening exercises -prevent bone
fractures
•Endocrine abnormalities
•Hypophosphatemia -High doses of oral phosphate
andcalcitriol
•Pituitary hormone abnormalities -
somatostatinanalogues orpegvisomant
•Excessive prolactin secretion -Cabergoline
•Cushing syndrome–Adrenalectomy, Metyrapone
[
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43. MAZABROUD
SYNDROME
Polyostotic fibrous dysplasia + intramuscular myxoma
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44. Signs &
symptoms
•Benign, asymptomatic, myxomatoustumours
•Women predilection
•Skeletal deformities, pain & spontaneous fracture
•Prognosis -Higher incidence of transformation to
osteosarcoma
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45. Maxillofacial
Mazabroud
syndrome
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46. Conclusion
•Early identification of MPS disease with genetic
counselling & appropriate management
•Educating the affected individuals about the
inheritance pattern
•Cosmetic & dental corrections in Parry Romberg
syndrome, Hunter syndrome
•Identification & correction of Macroglossiain
Beckwith-Widemannsyndrome
•Hyperplastic mandible with associated pain & swelling
with café au laitpigmentation suspect Jaffe lichenstein
type of FD
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47. References•https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/
•Sharon Vincent,Joe Mathew Cherian,Abi M Thomas,Rajesh Kumar A rare case of severe
Hunter's Syndrome ChrismedJournal of health and research volume 5 2018
•https://mpssociety.org/learn/diseases/mps-ii/
•GuvenG, CehreliZC, AltunC, et al. Mucopolysaccharidosistype I (Hurler syndrome): oral and
radiographic findings and ultrastructural/chemical features of enamel and dentin.Oral Surg
Oral Med Oral PatholOral RadiolEndod. 2008;105(1):72-78. doi:10.1016/j.tripleo.2007.02.015
•https://rarediseases.info.nih.gov/diseases/12559/hurler-syndrome
•https://www.verywellhealth.com/how-genetic-disorders-are-inherited-2860737
•https://rarediseases.org/rare-diseases/parry-romberg-syndrome/
•Jenny LelwicaButtaccioAn Overview of Beckwith-WiedemannSyndrome 2020
•https://www.ninds.nih.gov/disorders/all-disorders/parry-romberg-information-page
•H.Naujokat
,
B.MöllerH.TerheydenF.BirkenfeldD.CaliebeM.F.KrauseH.Fischer-Brandies
,
J.WiltfangTongue reduction in Beckwith–Wiedemannsyndrome: outcome and treatment
algorithm International Journal of oral & maxillofacial surgery 2018
•Peter SvenssenMunksgaard,GiedriusSalkus,Victor V Iyer,andRune VincentsFisker
Mazabraud'ssyndrome: case report and literature review ActaRadiolShort Rep. 2013 May
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48. MCQ
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49. 1. Precocious
puberty is
most
characteristic
of which of
the following?
A.Jaffe’s syndrome
B.Monostoticfibrous dysplasia
C.Albright’s syndrome
D.Osteogenesisimperfect
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50. 2. Cardinal
sign of
Beckwith-
wiedemann
syndrome
A.Hypertrophied heart
B.Macroglossia
C.Tumours
D.Asthma
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51. 3. Jaw
winking
sign is seen
in
A.OFDS type III
B.OFDS type I
C.Parry Romberg syndrome
D.None of the above
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52. 4. Polyostotic
fibrous
dysplasia +
precocious
puberty seen
in
A.McCune Albright syndrome
B.Mazabroud syndrome
C.Jaffe lichensteinsyndrome
D.Monostoticfibrous dysplasia
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53. 5. Which of
these show
X-linked
recessive
inheritance
A.Hurler syndrome
B.Hunter syndrome
C.Both
D.None of the above
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54. Thank you
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