Syndromes of Head & Neck

 Albright Syndrome:
- Polyostotic fibrous dysplasia (multiple bones affected)
- Patchy skin pigmentation (referred to as cafe-au-lait spots)
- Endocrine abnormality (usually precocious puberty in girls)
- Facial asymmetry affects up to 25% of cases.

 Apert Syndrome: rare developmental deformity

- Craniosynostosis (premature fusion of cranial sutures)
- Syndactyly (fusion of fingers or toes).
- Severe mid-face retrusion leads to exophthalmos of varying severity.
- Early surgical intervention may be indicated for raised intracranial pressure or to
prevent blindness from subluxation of the globe of the eye.

 Beckwith-Wiedermann Syndrome:
- Exomphalos (weakness of the baby's abdominal wall).
- Macroglossia.
- Gigantism.
- Adrenal and renal anomalies.
- May have profound hypoglycemia.
- Tongue reduction sometimes required.

 Behcet's Disease:
 Multisystem disease of immunological origin (all organs of the body can be affected),
need to recognize and refer for multidisciplinary care.
 Severe relapsing and remitting systemic vasculitis, characteristically affecting venules.
 It's Oral Ulcer with 2 of the followings:
- Skin lesions.
- Uveitis (inflammation of the uvea the middle layer of the eye).
- Genital ulcers.
- Blistering of skin when cannulated.
 It is a disease of young adults. More common and more severe in males
 Clinical diagnosis only. No tests.
 Azathioprine, Cyclosporine and Thalidomide are in use to treat it.

 Binder Syndrome:
- Maxillofacial dysplasia
- Severe mid-facial retrusion.
- Absent or hypoplastic frontal sinuses (main features)
- No associated intellectual defect.
 Castleman Syndrome:
- Also knows as Benign Giant Lymph Nodes Hyperplasia.
- Rare cause of massive cervical swelling which resembles lymphoma but with no
identifiable malignant cells.
- Some variants are benign, others considered premalignant.

 Chediak-Higashi Syndrome:
- Genetic disease.
- Defective neutrophil function.
- Abnormal skin pigmentation.
- Increased susceptibility to infection (leading to severe gingivitis, periodontitis, and
aphthae in young children).

 Cleidocranial Dysplasia (Cleidocranial Dysostosis):

- Autosomal dominant inherited condition.
- Hypoplasia or aplasia (absence) of clavicle.
- Delayed ossification of the cranial fontanelles.
- Large, short skull.
- Shortness of stature.
- Frontal and parietal bossing.
- Failure to pneumatize the air sinuses.
- High arched palate &/or clefting.
- Mid-face hypoplasia.
- Failure of tooth eruption with multiple supernumerary teeth.
- The condition mainly (though not exclusively) affects membranous bone.

 'Cri du chat' Syndrome:

It is chromosomal abnormality caused by deletion of part of the short arm of
chromosome No.5 resulting in:
- Microcephaly (abnormal smallness of the head).
- Hypertelorism (abnormally increased distance between the eyes).
- Round face with broad nasal bridge and malformed ears.
- Associated Laryngeal hypoplasia.
- Associated severe mental retardation.

 Crouzon Syndrome:
- Premature fusion of the cranial sutures.
- Mid-face hypoplasia.
- Shallow orbits with proptosis of the globe of the eye.
- X-Ray: beaten copper skull appearance.
 The enlarging brain is trapped by the prematurely fused sutures & increased
intercranial pressure can both lead to cerebral damage and resulting intellectual
deficiency and high risk of blindness.
 Down Syndrome (DS):
 The commonest of all malformation syndromes. Risk increased with maternal age.
 Facial and intraoral findings include:
- Brachycephaly ( shape of the skull is shorter than typical).
- Mid-face retrusion. (V-shaped palate, and soft palate insufficiency).
- Small nose with flattened nasal bridge.
- Upward sloping palpebral fissures (mongoloid slant).
- Relative macroglossia.
- Delayed eruption of teeth.
- 35-55% microdontia, clinical crowns are short.
- Increased caries resistance.
- Gingivitis develops earlier and more rapidly and extensively in persons with DS
due to abnormality in host defenses.
- Altered microbiological composition of subgingival plaque, including increased
Actinomyces and Hemophilus strains.
- Scalloped, fissured tongue with bifid uvula.
 Major relevant associations are:
- Heart defects. – Atlanto-axial subluxation.
- Increased risk of leukemia. – Anemia.

 Eagle syndrome:
 Rare condition characterized by
- Sudden, sharp nerve-like pain in the jaw bone and joint, back of the throat, and
base of the tongue triggered by swallowing, moving the jaw, or turning the neck.
- Difficulty swallowing (dysphagia).
- Sensation of having a foreign object in throat.
- Ringing or buzzing in the ear.
 In vascular eagle syndrome, the elongated styloid process comes in contact with
the internal carotid artery below the skull. In these cases, turning the head can cause
compression of the artery or a tear inside the blood vessel, which restricts blood
flow and can potentially lead to a transient ischemic attack.
 Caused due to extensive calcium deposit.

 Ehlers-Danlos Syndrome:
 Group of disorders characterized by:
- Hyperflexibility of joints.
- Increased bleeding and bruising.
- Hyperextensible (elastic) skin.
 There appears to be an underlying molecular abnormality in collagen:
- Bleeding is commoner in type IV.
- Early onset periodontal disease in type VIII.
- Pulp stones may be seen in all types.
 Frey Syndrome:
- A condition in which gustatory sweating and flushing of skin occur.
- It follows trauma to skin overlying a salivary gland and in thought to be due to
post-traumatic crossover of sympathetic and parasympathetic innervation to the
gland and skin, respectively.

 Gardner Syndrome:
- Multiple osteomas (particularly of the jaws and facial bones).
- Multiple polyps of the large intestine (with tendency to rapid malignant change).
- Epidermoid cysts.
- Fibromas of the skin.

 Goldenhar Syndrome:
 It's a variant of hemifacial microsomia (abnormal smallness) and consists of:
- Microtia (small ears).
- Macrostomia (large wide mouth).
- Agenesis of the mandibular ramus and condyle.
- Vertebral abnormalities.
- Epibulbar dermoids: benign congenital tumors that contain choristomatous tissue
(choristomas are congenital overgrowth of normal tissue in abnormal locations). Most frequent
site for epibulbar dermoid is inferior-temporal part of limbus (junction between cornea and
conjunctiva).
- Cardiac, renal or skeletal abnormalities can occur.

 Golin-Goltz Syndrome (Multiple Basal Cell Nevus Syndrome):

- Multiple Basal Cell Carcinomas.
- Multiple jaw cysts (Odontogenic Keratocysts).
- Vertebral and rib anomalies (usually bifid ribs)
- Calcification of the falx cerebri.
- Frontal bossing.
- Mandibular prognathism.
- Hypertelorism.
- Hydrocephalus.

 Graves disease:
 Autoantibodies to thyroid stimulating hormone cause Hyperthyroidism with
ophthalmopathy.
 Women 30-50yrs are commonly affected.
 Haerfordt Syndrome (uveoparotid fever):
 Sacroidosis with associated lacrimal and salivary (especially parotid) swelling, uveitis,
and fever.
 Sometimes there are associated neuropathies e.g. facial palsy.

 Horner Syndrome:
- Constricted pupil (miosis).
- Drooping eyelid (ptosis).
- Unilateral loss of sweating (anhydrosis) on the face.
- Occasionally sunken eye (enophthalmos).
 Caused by interruption of sympathetic nerve fibers at the cervical ganglion secondary
to e.g. "bronchogenic carcinoma" invading the ganglion or neck trauma.

 Hurler Syndrome:
 Mucopolusaccharidosis causing:
- Growth failure and mental retardation.
- Large head.
- Frontal bossing.
- Hypertelorism.
- Multiple skeletal abnormalities (dysostosis multiplex).
- Corneal clouding.

 Hypohydrotic Ectodermal Dysplasia (HED):

 Rare genetic condition characterized by:
- Reduced ability to sweat (hypohydrosis).
- Missing teeth (hypodontia).
- Lack of hair (hypotrichosis).
 Individual affected by HED share the similar facial appearance:
- Thin, dark skin beneath the eyes with extra folds or wrinkles.
- Depressed "saddle" nose.
- Small narrow jaw.
- Small pointed teeth.
- Eruption of the teeth may be delayed, or only a few teeth may erupt.

 Kawasaki disease:
 Usually affects children less than 5 yrs with:
- Pyrexia (fever) and rash.
- Cervical lymphadenopathy.
- Dry cracked lips.
- Red eyes, red finger and toes.
 Arteritis is the most serious complication.
 Treated in hospital with immunoglobulin and aspirin.
 Kikuchi Syndrome:
- Histiocytic necrotizing lymphadenitis.
- Increasing cause of cervical lymphadenopathy.
- Associations with SLE and haemophagocytic syndrome.

 Klippel-Feil Anomalad:
 It is the association of cervical vertebral fusion, short neck and low-lying posterior
hairline.
 A number of neurological anomalies have been noted.
 Unilateral renal agenesis is frequent.
 Cardiac anomalies sometimes occur.

 Larsen Syndrome:
 Autosomal dominant condition, with predilection for females, consisting of:
- Cleft palate.
- Flattened facies.
- Multiple congenital dislocations
- Deformity of the feet.
 Sufferers are usually of short stature.
 Larynx may be affected.

 Lesch-Nyhan Syndrome:
 Defect of purine metabolism causing:
- Mental retardation.
- Spastic cerebral palsy.
- Choreoathetosis (the occurrence of involuntary movements in a combination of chorea
(irregular migrating contractions) and athetosis (twisting and writhing).
- Aggressive mutilating behavior (particularly involving the lips).

 MAGIC Syndrome:
 Stands for Mouth And Genital ulcers and Intestinal Chondritis and is a variant of the
Behcet disease group.

 Melkerson-Rosenthal Syndrome:
- Facial paralysis.
- Facial oedema.
- Fissured tongue.
 It's probably a variant of the group of conditions now known as Orofacial
Granulomatosis.
 Orocafial-Digital Syndome:
 It is one of the many Cleft Lip and Palate (CLP) syndromes, all of which are
associated with Hypodontia (especially laterals) and Supernumeraries.
 This one has finger abnormalities as well.

 Papillon-Lefevre Syndromes:
 It is palmoplanter hyperkeratosis and juvenile periodontitis. Which affects primary and
permanent dentition.
 Normal dental development occurs until the appearance of hyperkeratosis of the palms
and soles, then simultaneously an aggressive gingivitis and periodontitis begin.
 The mechanism is not well understood.

 Patterson-Brown-Kelly Syndrome (Plummer-Vinson Syndrome):

- Dysphasia (due to a post-cricoid web, usually a membrane on the anterior
oesophageal wall, which is premalignant)
- Microcytic hypochromic anemia.
- Koilonychias (spoon-shaped nails).
- Angular cheilitis.
 Koilonychias and angular cheilitis are secondary to the anemia but may be presenting
symptoms.
 The main affecting group is middle-aged women, and correction of anemia may both
relieve the symptoms and prevent malignant progression of the web.

 Peutz-Jeghers Syndrome:
 Autosomal dominant condition of melanotic pigmentation of skin (especially peri-oral
skin) and mucosa, and intestinal polyposis.
 Unlike Gardner Syndrome, intestinal polyposis of Peutz-Jegher syndrome have no
particular propensity to malignant change. They may cause intussusception or other
forms of gut obstruction.
 Ovarian tumors are sometimes associated with the condition (10%).

 Progeria:
 It is probably a collagen abnormality. It causes Dwarfism and Premature aging.
 Characteristic facial appearance occurs due to a disproportionately small face with
mandibular retrognathia and a beak-like nose, creating an unforgettable appearance.
 Death occurs in the mid-teens.
 Pycnodysostosis:
- Micrognathia with hypoplasia of the mandibular angle.
- Exophthalmos.
- Dwarfism.
- Short fingers.
- Osteopetrosis.
 Rarely present for orthognathic/orthodontic treatment. Be aware of the osteopetrosis.

 Ramsay-Hunt Syndrome:
 Lower motor neuron facial palsy, with vesicles on the same side in the pharynx,
external auditory canal, and on the face.
 It is thought to be due to Herpes Zoster of the geniculate ganglion.

 Reiter Syndrome:
 Consists of Arthritis, urethritis and conjunctivitis.
 There are frequently oral lesions, which resemble benign migratory glossitis is
appearance but affect other parts of the mouth.
 The condition is probably an unwanted effect of an immune response to a low-grade
pathogen.

 Robin Sequence (Pierre Robin Syndrome):

- Micrognathia.
- Glossoptosis.
- Airways obstruction.
- Cleft palate
- Huge number of associated anomalies.

 Romberg Syndrome (Hemifacial Atrophy):

 Consists of progressive atrophy of the soft tissues of the face, associated with
contralateral Jacksonian epilepsy and trigeminal neuralgia.
 Rarely, half of the body may be affected.
 It starts in the first decade and lasts almost three years before it becomes quiescent.

 Sicca Syndrome (Primary Sjogren Syndrome):

 Xerostomia and kerato conjunctivitis sicca (dry mouth and dry eyes).
 There is an increase risk of developing parotid lymphoma with this condition.
 Association with Rheumatoid Arthritis.
 Silent Sinus Syndrome:
 Can cause painless facial asymmetry, diplopia (double vision) and enophthalmos
(posterior displacement of the eyeball within the orbit).
 It is a spontaneous collapse of the maxillary sinus (and hence orbital floor which is its
floor) associated with negative sinus pressure presumed to be due to failure of
ventilation at the ostiomeatal complex which needs to be surgically opened.
 Ostiomeatal Complex: is a common channel that links the frontal sinus, anterior ethmoid air
cells and the maxillary sinus to the middle meatus allowing airflow and mucociliary drainage.

 Sjogren Syndrome (Secondary Sjogren Syndrome):

 In addition to dry eyes and dry mouth this has both the serology and symptomatology
of an autoimmune condition, usually Rheumatoid Arthritis, but sometimes SLE,
Systemic Sclerosis, or primary biliary cirrhosis (autoimmune disease of the liver).
 Actually swelling of the salivary glands is relatively uncommon and late-onset
swelling of the parotids may announce the presence of lymphoma.

 Steven-Johnson Syndrome:
 Severe version of Erythema Multiforme, a mucocotaneous condition that is probably
autoimmune in nature and precipitated particularly by drugs.
 Classical signs are the target lesions, concentric red rings which especially affect the
hands and feet.
 Steven- Johnson syndrome is said to be present when the condition is particularly
severe, and is associated with fever and multiple mucosal involvement.
 Viral infection e.g. herpes simplex, are the second commonest cause.

 Stickler Syndrome:
 Perhaps the commonest syndrome associated with cleft palate (20%).
 Consists of:
- Flat mid-face.
- Cleft palate.
- Myopia (nearsightedness).
- Retinal detachment.
- Hearing loss (80%).
- Arthropathy.
 30% of Robin Sequence patients have Stickler syndrome, therefore examine eyes.
 Treacher Collins Syndrome (Mandibulofacial Dysostosis):
 Basically involves defects in the structures derived from the first branchial arch.
 It is inherited as an autosomal dominant trait with variable expressivity,
and consists of:
- Downward-sloping (antimongoloid slant) palpebral fissures.
- Hypoplastic malar complexes.
- Mandibular retrognathia with a high gonial angle.
- Deformed pinnas.
- Hypoplastic air sinuses.
- Colobomas in the outer third of the eye.
- Middle and inner ear hypoplasia (and hence deafness).
- 30% have cleft palates.
- 25% have an unusual tongue-like projection of hair pointing towards the cheek.
 Most have normal intellectual function, which may be missed because they are deaf
and 'funny-looking-kids'. These people may well miss out on fulfilling their potential
because of society's attitude to deformity.
 This syndrome is a prime indication for craniofacial surgery.
 Trotter Syndrome:
- Unilateral deafness.
- Pain in the mandibular division of the trigeminal nerve.
- Ipsilateral immobility of the palate.
- Trismus (due to invasion of the lateral wall of the nasopharynx by malignant
tumor).
 Pterygopalatine Fossa Syndrome is a similar condition where the first and second
divisions of the trigeminal are affected.

 Van Der Woude Syndrome:

 A condition that affects the development of the face.
 Many people with this disorder are born with cleft lip/cleft palate or both.
 Affected patients usually have depressions near the center of the lower lip.
 Second premolars missing in 10-20%.

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