Orofacial syndromes

OROFACIAL
SYNDROMES
PART I
R.K.HARITHA
BDS CRI
www.rkharitha.wordpress.com

CONTENTS • Introduction
• Understanding genetics
• Orofacial digital syndrome
• Hurler syndrome
• Hunter syndrome
• Parry Romberg syndrome
• Beckwith wiedeman syndrome
• Jaffe lichenstein syndrome
• McCune Albright syndrome
• Mazabrauds syndrome

Introduction
SYNDROME
• A group of symptoms that collectively
indicate or characterize a disease,
psychological disorder, or other
abnormal condition.

UNDERSTANDING
GENETICS

OROFACIAL
DIGITAL
SYNDROME

Types of
orofacial
digital
syndrome
• OFDSType I (Papillon-Leage-Psaume Syndrome)
• OFDSType II (Mohr Syndrome)
• OFDSType III (Sugarman Syndrome)
• OFDSType IV (Baraitser-Burn Syndrome)
• OFDSTypeV (Thurston Syndrome)
• OFDSTypeVI (Varadi Syndrome)
• OFDSTypeVII (Whelan Syndrome)
• OFDSTypeVIII (Edwards Syndrome)
• OFDSType IX (OFD Syndrome with Retinal
Abnormalities)
• OFDSType X (OFD with Fibular Aplasia)

Type of
inheritance
of gene
mutations
• X-Linked Dominant
– OFDS type I
– OFDS typeVII
• X-Linked Recessive
– OFDS typeVIII
• Autosomal Dominant
– OFDS typeVII
• Autosomal Recessive
– OFDS type II
– OFDS type III
– OFDS type IV
– OFDS typeV
– OFDS typeVI
– OFDS type IX

Signs &
symptoms
• Face and skin: Hypertelorism, strabismus, alopecia
• Oral cavity: Cleft lip, cleft palate, lobed or split tongue,
tumors of 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

OFDS type
I disease
(Papillon-
Leage-
Psaume
syndrome)
• Coarse thin hair
• Grainy skin lesions
• Unilateral polysyndactyly
• Polycystic kidney disease

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”

OFDS type IV
(Baraister-Burn
syndrome)
OFDS type V
(Thurston
syndrome)
• Short tibias
• Person’s chest may be depressed.
• Midline cleft lip
• Polydactyly.

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

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”

MUCOPOLYSACCHARIDOSIS
Absence or malfunctioning of
lysosomal enzymes needed
to breakdown molecules
called glycosaminoglycans

Types

HURLER’S
SYNDROME
Hurler syndrome is 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 facies and reduced life expectancy.
Mutations in the IDUAgene (4p16.3)
 complete deficiency in the alpha-
L-iduronidase enzyme and
lysosomal accumulation of
dermatan sulfate and heparan
sulfate.

Clinical
features
• Musculoskeletal alterations including short stature,
dysostosis multiplex, thoracic-lumbar kyphosis,
progressive coarsening of the facial
features,cardiomyopathy and valvular abnormalities,
neurosensorial hearing 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.

HUNTER
SYNDROME
X-linked recessive inheritance

Etiology • Deficiency of the lysosomal enzyme iduronate-2-
sulfatase(I2S)  accumulation of heparan sulfate
and dermatan sulfate.

Signs &
symptoms

Mangement
• ENZYME REPLACEMENTTHERAPY
• 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
disorders MPS I, MPS II, MPS IVA, MPSVI and MPSVII
• HEMATOPIETIC STEM CELLTRANSPLANT
• 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, MPSVI, MPSVII

PARRY
ROMBERG
SYNDROME
• Hemifacial atrophy (HFA)
• Progressive facial hemiatrophy
• Progressive hemifacial atrophy
• Romberg syndrome

Etiology • Development or inflammation of the sympathetic
nervous system
• Viral infections
• Meningoencephalitis
• Trauma
• Angiogenesis
• Autoimmunity.

Pathogenesis • Inflammation in the nerves that supply skin and fat 
Autoantibodies  Autoimmune reaction

Signs &
symptoms
• Facial atrophy
• Linear scleroderma “en coup 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

Oral
manifestations
• Hemiatrophy of 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

BECKWITH-
WIEDEMANN
SYNDROME
It is a rare congenital overgrowth disorder with macroglossia being
one of the cardinal symptoms.

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 earlobes or the area
behind the ears
• Increased risk of cancer, especially in childhood

Macroglossia in
Beckwith-widemann
syndrome

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 tumor screenings via blood tests
and ultrasounds of the abdomen
• Screening and management of scoliosis
• Orthopedic surgery
• Therapeutic interventions like speech, physical, or
occupational therapy if strength, mobility, daily
activities, or speech is impaired

FIBROUS
DYSPLASIA
“ A benign, self limiting, nonencapsulated lesion occurring mainly in
maxilla, & showing replacement of normal bone by a cellular
fibrous tissue containing islands or trabeculae of metaplastic bone”

Classification

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 – monostotic fibrous dysplasia

JAFFE-
LICHENSTEIN
SYNDROME
Polyostostic fibrous dysplasia with café au lait
pigmentation

Signs &
symptoms
• Bone cyst
• Facial bone pain, swelling & tenderness
• Fractures
• Leontiasis ossea appearance
• Long bone pain, swelling & tenderness
• Rib pain, swelling & tenderness
• Scoliosis
• Skull pain, swelling & tenderness

MCCUNE
ALBRIGHT
SYNDROME
Polyostotic fibrous dysplasia + café au lait pigmentation+
precocious puberty + other endocrinal abnormalities

Signs &
symptoms
• Replacement of bone with fibrous tissue may lead to
fractures, uneven growth, and deformity.
• Asymmetry of skull, long bones, limping
• Scoliosis
• Shephard hook deformity
• Café au lait spots (Coast of maine)
• Precocious puberty as early as 2 years
• Thyroid – Goitre, hyperthyroidism
• Pituitary gland – acromegaly, coarse facial features
• Adrenal gland – Cushing’s syndrome

Oral
manifestations
• Malalignment
• Tipping
• Displacement
• Delayed eruption

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
and calcitriol
• Pituitary hormone abnormalities -
somatostatin analogues or pegvisomant
• Excessive prolactin secretion - Cabergoline
• Cushing syndrome – Adrenalectomy, Metyrapone[

MAZABROUD
SYNDROME
Polyostotic fibrous dysplasia + intramuscular myxoma

Signs &
symptoms
• Benign, asymptomatic, myxomatous tumours
• Women predilection
• Skeletal deformities, pain & spontaneous fracture
• Prognosis - Higher incidence of transformation to
osteosarcoma

Maxillofacial
Mazabroud
syndrome

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 Macroglossia in
Beckwith-Widemann syndrome
• Hyperplastic mandible with associated pain & swelling
with café au lait pigmentation suspect Jaffe lichenstein
type of FD

References • https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/
• SharonVincent, Joe Mathew Cherian, Abi MThomas, Rajesh Kumar A rare case of severe
Hunter's SyndromeChrismed Journal of health and research volume 5 2018
• https://mpssociety.org/learn/diseases/mps-ii/
• Guven G, Cehreli ZC, Altun C, et al. Mucopolysaccharidosis type I (Hurler syndrome): oral and
radiographic findings and ultrastructural/chemical features of enamel and dentin. Oral Surg
Oral MedOral Pathol Oral Radiol Endod. 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 Lelwica ButtaccioAn Overview of Beckwith-Wiedemann Syndrome 2020
• https://www.ninds.nih.gov/disorders/all-disorders/parry-romberg-information-page
• H.Naujokat,B.MöllerH.TerheydenF.Birkenfeld D.CaliebeM.F.KrauseH.Fischer-Brandies,
J.WiltfangTongue reduction in Beckwith–Wiedemann syndrome: outcome and treatment
algorithm International Journal of oral & maxillofacial surgery 2018
• Peter Svenssen Munksgaard,Giedrius Salkus,VictorV Iyer,and RuneVincents Fisker
Mazabraud's syndrome: case report and literature review Acta Radiol Short Rep. 2013 May

MCQ

1. Precocious
puberty is
most
characteristic
of which of
the following?
A. Jaffe’s syndrome
B. Monostotic fibrous dysplasia
C. Albright’s syndrome
D. Osteogenesis imperfect

2. Cardinal
sign of
Beckwith-
wiedemann
syndrome
A. Hypertrophied heart
B. Macroglossia
C. Tumours
D. Asthma

3. Jaw
winking
sign is seen
in
A. OFDS type III
B. OFDS type I
C. Parry Romberg syndrome
D. None of the above

4. Polyostotic
fibrous
dysplasia +
precocious
puberty seen
in
A. McCune Albright syndrome
B. Mazabroud syndrome
C. Jaffe lichenstein syndrome
D. Monostotic fibrous dysplasia

5. Which of
these show
X-linked
recessive
inheritance
A. Hurler syndrome
B. Hunter syndrome
C. Both
D. None of the above

Thank you

Orofacial syndromes

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