SYNDROMES OF

OROFACIAL
REGION III

Presented By: Bikash Faculty: Dr. Aashish

Chaurasia Shrestha
522 Dr. Vinay
Contents:
 BECKWITH-WIEDEMANN SYNDROME
 CREST SYNDROME
 EAGLE SYNDROME
 HURLER SYNDROME
 HUNTER SYNDROME
 KLINEFELTER SYNDROME
 McCUNE-ALBRIGHT SYNDROME
 OSLER-WEBER-RENDU SYNDROME
 BECKWITH-WIEDEMANN SYNDROME

Is an overgrowth disorder usually present at birth,

characterized by an increased risk of
childhood cancer and certain congenital features.

Clinical Features:
 Macroglossia (large tongue),
 Macrosomia (above average birth weight and length),
 Midline abdominal wall defects (Omphalocele)
 Ear creases or Ear pits
 Neonatal hypoglycemia (low blood sugar after birth).
 Umbilical hernia
 Microcephaly
Individuals with BWS Facial features
have an increased may include
risk for several Nevus
childhood visceral flammeus(port-
tumors including wine stain) of the
Wilms’ tumor forehead and
Adrenal carcinoma eyelids
Hepatoblastoma Linear
Rhabdomyosarcoma indentations of the
and ear lobes
Maxillary
 Other conditions where we can see
Macroglossia:
Vascular Malformations( Lymphangioma
and Hemangioma)
Apparent macroglossia in Down
Syndrome
Mucopolysaccharidosis
Hypothroid disorders( Myxedema)
Amyloidosis
 CREST SYNDROME
[Acrosclerosis]

Is a multisystem connective tissue disorder.

Usually associated with Systemic
Scleroderma(a systemic disorder of the
connective tissue characterized by hardening
and thickening of the skin, abnormalities of
both microvasculature(telangiectasias) and
large vessels(Raynaud’s phenomenon)and
fibrotic degenerative changes in the body
organs such as heart,lungs,kidneys and GI
tract.
The acronym "CREST" refers to five main
features:
C- Calcinosis cutis
R-Raynaud's phenomenon
E-Esophageal dysmotility
S-Sclerodactyly and
T-Telangiectasia.
Clinical Features:
Mostly women in the 6th or 7th decade of life

Calcinosis cutis:
Movable,nontender,subcutaneous
nodules(0.5-2)cm in size usually multiple
in number
Raynaud’s phenomenon:
Observed when person’s hands and feet
are exposed to cold temperature.
Intermittent bilateral ischemia of the
fingers, toes and sometimes ear and nose.
Relieved by heat. When it is idiopathic or
primary it is called Raynaud’s disease.
Esophageal dysfunction:
Caused by abnormal collagen deposition in the
esophageal submucosa.
Sclerodactyly:
Fingers become stiff, skin becomes smooth shiny
appearance, claw deformity.
As with Systemic sclerosis: this change is due
to abnormal deposition of collagen within the dermis.
Telangiectasias:
Significant bleeding from the dilated capillaries, facial
skin and vermillion zone of lips commonly affected.
 EAGLE SYNDROME
[Stylohyoid Syndrome, Carotid artery syndrome]

The Styloid process is a slender bony projection that

originates from the inferior aspect of the temporal bone,
anterior and medial to the stylomastoid foramen.
Clinical and Radiographic Features:
Vague facial pain especially while swallowing, turning the
head, or opening the mouth.
Other symptoms may include
dysphagia,dysphonia,otalgia,headache,dizziness,and
transient syncope.
Elongation of the styloid process or mineralization of the
stylohyoid ligament complex can be seen on panoramic or
lateral jaw radiographs.
Most cases are asymptomatic however some experience
these symptoms due to impingement or compression of
adjacent nerves or blood vessels.
Types:

1) Classic Eagle syndrome

Occurs after tonsillectomy and
scar formation and contraction
resulting in pressure on nerve
causing pain
2)Carotid artery syndrome
Calcification of stylohyoid
ligament and enlargement of
styloid process which encroaches
carotid vessels causing pain
3)Traumatic Eagle syndrome
Occurs after fracture of
mineralized stylohyoid ligament
Treatment and Prognosis
Depends on severity of the symptoms.
For mild cases, no treatment may be
necessary.
Local injection of corticosteroids sometimes
provides relief.
In more severe cases, partial surgical
excision of the elongated styloid process or
mineralized stylohyoid ligament is required.
Prognosis is Good.
 HURLER
SYNDROME
Also known as Mucopolysaccharidosis
 type I (MPS I) or Gargoylism(Gargoyle
facies) is a genetic disorder
Due to deficiency of α-L-Iduronidase
This enzyme is responsible for the
degradation of mucopolysaccharides.
Symptoms appear during childhood and
early death can occur due to
organ damage and is mainly due to
accumulation of heparan sulphate and
dermatan sulphate in the body.
Hurler syndrome is often classified as
a Lysosomal storage disease, and is
clinically related to Hunter Syndrome.
Hunter syndrome is X-linked recessive
while Hurler syndrome is Autosomal
recessive.
Clinical Features
Progressive corneal clouding is
a classic manifestation of this
disease
Hepatosplenomegaly 
Dwarfism
Progressive mental retardation
Distinct facial features
(including flat face, depressed
nasal bridge, bulging
forehead,hypertelorism,wide
nostrils, puffy eyelids, thick
 Children with Hurler syndrome often
die before age 10 from obstructive
airway disease, respiratory infections,
or cardiac complications.
Treatment
Enzyme replacement therapies
Bone marrow transplantation
 Umbilical cord blood transplantationTreatment[edit]
 Enzyme replacement therapies are currently in use. BioMarin Pharmaceutical
 provides therapeutics for mucopolysaccaradosis type I (MPS I), by manufacturing 
laronidase(Aldurazyme), commercialized by Genzyme. Enzyme replacement therapy
has proven useful in reducing non-neurological symptoms and pain.
 Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT)
can be used as treatments for MPS. Abnormal physical characteristics, except for
those affecting the skeleton and eyes, can be improved, and neurologic
degeneration can often be halted. BMT and UCBT are high-risk procedures with high
 HUNTER
SYNDROME

Also known as mucopolysaccharidosis type II

(MPS II), is a lysosomal storage disease.
Due to deficiency of enzyme Iduronate-2-
sulfatase.
The syndrome has X-linked recessive inheritance.
Clinical Features
Abdominal hernias, ear infections, runny
nose
Prominent forehead, a nose with a
flattened bridge, and an
enlarged tongue, thick lips, broad nose
All major joints(including
the wrists, elbows, shoulders, hips,
and knees) may be affected, leading
to joint stiffness and limited motion. 
 Treatment[edit]
 Because of the very specific nature of the illness, treatment
 has been proven very difficult. The treatment for this
disorder can usually be specifically determined for each
patient, because all cases are different.
 Palliative treatment[edit]
 Due to the nature of the illness, and absence of a really
efficient treatment, it is important to emphasize the need
for extensive palliative treatment against the diverse
symptoms. Their objective is to reduce the effects of the 
deterioration of many bodily functions. In light of the
diversity of symptoms, it is quite common to use a wide
spectrum of palliative strategies where surgery and
therapies are often pivotal.
 Bone marrow transplantation[edit]
 HURLER HUNTER
SYNDROME SYNDROME
 MPS I-H  MPS II
 Autosomal recessive  X-linked recessive
inheritance inheritance
 α-L-Iduronidase deficiency
 Iduronate-2-sulfatase
deficiency
 Appears in infancy  Appears at 1-2 years of
 Death before age 10 years age
 Early clouding of cornea  Death usually before
age 15
 No clouding of cornea
 KLINEFELTER
SYNDROME
Also known as 47XXY Syndrome is the set of
symptoms resulting from a genetic disorder in
which there is at least one extra X chromosome
to a standard human male karyotype, for a total
of 47 chromosomes rather than the 46 found in
genetically typical humans.
Clinical Features
Hypogonadism
Sterility
Gyanecomastia
Broader Hips

Oral manifestation:
Taurodontism(peculiar
dental anomaly in which
the body of the tooth is
enlarged at the expense of
the roots, Bull-Like teeth)
 Treatment for Klinefelter syndrome may include:
 Testosterone replacement therapy. Males with Klinefelter syndrome don't produce enough of
the male hormone testosterone, and this can have lifelong effects. Starting at the time of the usual
onset of puberty, testosterone replacement can help treat or prevent a number of problems.
 Testosterone may be given as an injection or with a gel or patch on the skin.
 Testosterone replacement therapy allows a boy to undergo the body changes that normally occur at
puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle
mass and penis size.
 Testosterone therapy can also improve bone density and reduce the risk of fractures. It will not
result in testicle enlargement or improve infertility.
 Breast tissue removal. In males who develop enlarged breasts (gynecomastia), excess breast
tissue can be removed by a plastic surgeon, leaving a more normal-looking chest.
 Speech and physical therapy. These treatments can help boys with Klinefelter syndrome
overcome problems with speech, language and muscle weakness.
 Educational support. Some boys with Klinefelter syndrome have trouble learning and can benefit
from extra assistance. Talk to your child's teacher, school counselor or school nurse about what kind
of support might help.
 Fertility treatment. Most men with Klinefelter syndrome are unable to father children, because no
sperm are produced in the testicles. Some men with Klinefelter syndrome may have some minimal
sperm production.
 One option that may benefit men with minimal sperm production is a procedure called
intracytoplasmic sperm injection (ICSI). During ICSI, sperm is removed from the testicle with a
biopsy needle and injected directly into the egg.
 Other alternatives for having children include adoption and artificial insemination with donor sperm.
 Psychological counseling. Having Klinefelter syndrome can be a challenge, especially during
puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A
 McCUNE-ALBRIGHT SYNDROME
(Polyostotic fibrous dysplasia)

 McCune–Albright syndrome, or
simply Albright syndrome, is a genetic disorder
of bones, skin pigmentation and hormonal
problems along with premature puberty.
 It is due to postzygotic mutation of the GS alpha
gene in the affected tissues.

Mauricio Saravia
A Uruguayan artist with the disease
Clinical Features
Exclusively seen in
females.
Approximately 20-
30% of fibrous
dysplasia are
Polyostotic, which
means fibrous
dysplasia and
sclerotic bone are
present in multiple
sites; two thirds of
patients are
Polyostotic before the
 The disease frequently involves
the skull and facial bones, pelvis, spine
and shoulder girdle. The sites of
involvement are
the femur (91%), tibia (81%), pelvis
(78%), ribs, skull and facial bones
(50%),
Clinical Features
 Hyperthyroidism 
 Cushing syndrome
 Precocious puberty in
women
 Acromegaly
 café au lait spots(coffee
with milk color spot) due
to increased amounts of
melanin in the basal cells
of the epidermis.
OSLER-WEBER-RENDU SYNDROME

 Also known as Hereditary Hemorrhagic Telangiectasia.

 Is an autosomal dominant genetic disorder that leads
to abnormal blood vessel formation in
the skin, mucous membranes, and often in organs
such as the lungs, liver, and brain.

 Arteriovenous malformation
In left hemisphere of brain.
 Diagnosis:

TRIAD:
Telangiectasia
Recurrent epistaxis
Arteriovenous malformation involving the lungs,
liver or CNS
Positive family history
Clinical Features
spider like
telangiectasias in skin
lips,gingiva,buccal
mucosa,palate, floor of
the mouth and the
tongue
Signs and symptoms[edit]
Telangiectasias[edit]
Tongue telangiectases as seen in a person with hereditary hemorrhagic telangiectasia

Telangiectasia (small vascular malformations) may occur in the skin and mucosal linings of the nose and gastrointestinal tract. The most common

problem is nosebleeds (epistaxis), which happen frequently from childhood and affect about 90–95% of people with HHT. Lesions on the skin and in the
mouth bleed less often but may be considered cosmetically displeasing; they affect about 80%. [1][2] The skin lesions characteristically occur on the lips,
the nose and the fingers, and on the skin of the face in sun-exposed areas. They appear suddenly, with the number increasing over time. [2]
About 20% are affected by symptomatic digestive tract lesions, although a higher percentage have lesions that do not cause symptoms. These lesions

may bleed intermittently, which is rarely significant enough to be noticed (in the form of  bloody vomiting or black stool), but can eventually lead to
depletion of iron in the body, resulting in iron-deficiency anemia.[1][2]
Arteriovenous malformation[edit]

A very large arteriovenous malformation in the left hemisphere (on the right in this image) of the brain.

Arteriovenous malformation (AVM, larger vascular malformations) occur in larger organs, predominantly the lungs (50%), liver (30–70%) and the  brain

 (10%), with a very small proportion (<1%) having AVMs in the spinal cord.[1][2]
Vascular malformations in the lungs may cause a number of problems. The lungs normally "filter out"  bacteria and blood clots from the bloodstream;

AVMs bypass the capillary network of the lungs and allow these to migrate to the brain, where bacteria may cause a brain abscess and blood clots may
lead to stroke.[1] HHT is the most common cause of lung AVMs: out of all people found to have lung AVMs, 70–80% are due to HHT. [4][5] Bleeding from
lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) orhemothorax (blood accumulating in the chest cavity). [1][2][4] Large
vascular malformations in the lung allow oxygen-depleted blood from theright ventricle to bypass the alveoli, meaning that this blood does not have an
opportunity to absorb fresh oxygen. This may lead tobreathlessness.[4][5] Large AVMs may lead to platypnea, difficulty in breathing that is more marked
when sitting up compared to lying down; this probably reflects changes in blood flow associated with positioning. [4] Very large AVMs cause a marked
inability to absorb oxygen, which may be noted by cyanosis (bluish discoloration of the lips and skin), clubbing of the fingernails (often encountered in
chronically low oxygen levels), and a humming noise over the affected part of the lung detectable by stethoscope.[4][5]
The symptoms produced by AVMs in the liver depend on the type of abnormal connection that they form between blood vessels. If the connection is

between arteries and veins, a large amount of blood bypasses the body's organs, for which the heart compensates by increasing the  cardiac output.
Eventually congestive cardiac failure develops ("high-output cardiac failure"), with breathlessness and leg swelling among other problems. [1][6] If the
AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein
pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased
pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows
directly into the veins rather than running through the liver; this may lead to  hepatic encephalopathy (confusion due to portal waste products irritating
the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). [1][6] Liver AVMs are detectable in
over 70% of people with HHT, but only 10% experience problems as a result. [2]
In the brain, AVMs occasionally exert pressure, leading to headaches. They may also increase the risk of seizures, as would any abnormal tissue in the

brain. Finally, hemorrhage from an AVM may lead to intracerebral hemorrhage (bleeding into the brain), which causes any of the symptoms of stroke
such as weakness in part of the body or difficulty speaking. If the bleeding occurs into the  subarachnoid space (subarachnoid hemorrhage), there is
usually a severe, sudden headache and decreased level of consciousness and often weakness in part of the body. [1][2]
Other problems[edit]

A very small proportion (those affected by SMAD4 (MADH4) mutations, see below) have multiple benign polyps in the large intestine, which may bleed

or transform into colorectal cancer. A similarly small proportion experiences pulmonary hypertension, a state in which the pressure in the lung arteries
 is increased, exerting pressure on the right side of the heart and causing peripheral edema (swelling of the legs), fainting and attacks of chest pain. It
Treatment
 For mild cases no treatment may be
required.
 Moderate cases may be managed by
selective cryosurgery or electrocautery.
 Mild to moderate cases-Laser ablation
 More severe cases may require a
surgical procedure.
 Prognosis is good.
 Any
Questions………..
bws
 Management[edit]
 Abdominal wall defects are common in newborns with BWS and may require surgical treatment. These defects can range in severity from
omphalocele (most serious) to umbilical hernia and diastasis recti (least serious). An omphalocele is a congenital malformation in which a
newborn's intestines, and sometimes other abdominal organs, protrude out of the abdomen through the umbilicus. Newborns with an omphalocele
typically require surgery to place the abdominal contents back into the abdomen in order to prevent serious infection or shock. An  umbilical
hernia is also a defect in which abdominal contents come through weak abdominal wall muscle at the umbilicus. In general, newborns with
umbilical hernias do not require treatment because often these hernias spontaneously close by age four. If, after this time, a hernia is still present,
surgery may be recommended. Diastasis recti is a separation of the left and right sides of the rectus abdominis muscle that are normally joined
together. Children with diastasis recti usually require no treatment because the condition resolves as the child grows.
 Neonatal hypoglycemia, low blood glucose in the first month of life, occurs in about half of children with BWS. [9] Most of these hypoglycemic
newborns are asymptomatic and have a normal blood glucose level within days. However, untreated persistent hypoglycemia can lead to
permanent brain damage. Hypoglycemia in newborns with BWS should be managed according to standard protocols for treating neonatal
hypoglycemia. Usually this hypoglycemia can easily be treated with more frequent feedings or medical doses of glucose. Rarely (<5%) children
with BWS will continue to have hypoglycemia after the neonatal period and require more intensive treatment. [3] Such children may require tube
feedings, oral hyperglycemic medicines, or a partial pancreatectomy.
 Macroglossia, a large tongue, is a very common (>90%) and prominent feature of BWS. Infants with BWS and macroglossia typically cannot fully
close their mouth in front of their large tongue, causing it to protrude out. Macroglossia in BWS becomes less noticeable with age and often
requires no treatment; but it does cause problems for some children with BWS. In severe cases, macroglossia can cause respiratory, feeding, and
speech difficulties. Children with BWS and significant macroglossia should be evaluated by a craniofacial team.
 The best time to perform surgery for a large tongue is not known. Some surgeons recommend performing the surgery between 3 and 6 months of
age. Surgery for macroglossia involves removing a small part of the tongue so that it fits within the mouth to allow for proper jaw and tooth
development.
 Nevus flammeus (port-wine stain) is a flat, red birthmark caused by a capillary (small blood vessel) malformation. Children with BWS often have
nevus flammeus on their forehead or the back of their neck. Nevus flammeus is benign and commonly does not require any treatment.
 Hemihypertrophy (hemihyperplasia) is an abnormal asymmetry between the left and right sides of the body occurring when one part of the body
grows faster than normal. Children with BWS and hemihypertrophy can have an isolated asymmetry of one body part, or they can have a
difference affecting the entire one side of the body. Individuals who do not have BWS can also have hemihypertrophy. Isolated hemihypertrophy is
associated with a higher risk for cancer.[10] The types of cancer and age of the cancers are similar to children with BWS. As a result, children with
hemihypertrophy should follow the general cancer screening protocol for BWS.
 Hemihypertrophy can also cause various orthopedic problems, so children with significant limb hemihyperplasia should be evaluated and followed
by an orthopedic surgeon.
 Hemihyperplasia affecting the face can sometimes cause significant cosmetic concerns that may be addressed by a cranial facial team.