Albright Syndrome (McCune-Albright Syndrome) - Polyostotic fibrous dysplasia (multiple bones

affected)
- Patchy skin pigmentation (cafe-au-lait spots)
- Endocrine abnormality (usually precocious puberty in girls)
- Facial asymmetry in 25% of cases
Apert Syndrome - Craniosynostosis (premature fusion of cranial sutures)
- Syndactyly (fusion of fingers or toes)
- Severe mid-face retrusion leading to varying exophthalmos
- Early surgical intervention for raised intracranial pressure or prevention of blindness
Behcet Syndrome - Oral ulceration
- Genital ulceration
- Uveitis
- Multisystem disease with immunological origin, tends to affect young adults- MALES MORE,
associated with HLA-B5
Binder Syndrome - Maxillonasal dysplasia
- Severe mid-facial retrusion
- Absent or hypoplastic frontal sinuses
- No associated intellectual defect
Chediak-Higashi Syndrome - Defective neutrophil function
- Abnormal skin pigmentation
- Increased susceptibility to infection (severe gingivitis, periodontitis, aphthae in young children)
- Genetic disease
Cleidocranial Dysostosis (Cleidocranial Dysplasia) - Autosomal dominant inherited condition
- Hypoplasia or aplasia of clavicles
- Delayed ossification of cranial fontanelles
- Short stature, frontal and parietal bossing, high arched palate, mid-face hypoplasia
failure to pneumatize the air sinuses, a high arched palate and/or clefting, mid-face hypoplasia, and
failure of tooth eruption with multiple supernumerary teeth. Many of the teeth present have
inherent abnormalities such as dilaceration of roots or crown gemination. Hypoplasia of secondary
cementum may occur. The condition mainly, though NOT exclusively, affects membraneous bone.
Cri du Chat Syndrome - Chromosomal abnormality (deletion of part of the short arm of
chromosome No. 5)
- Microcephaly, hypertelorism, round face, broad nasal bridge, malformed ears
- Laryngeal hypoplasia causing characteristic shrill cry
- Severe mental retardation
Crouzon Syndrome -Most common
Autosomal dominant condition
- Premature fusion of cranial sutures
- Mid-face hypoplasia
- Shallow orbits with proptosis of the eye globe
- "Beaten copper skull" appearance on radiography
Low intellect --enlarging brain is entrapped by the prematurely fused sutures, and ⇑ intracranial
pressure can lead to cerebral damage
Risk of blindness
Down Syndrome (Trisomy 21) - Commonest malformation syndrome
- Brachycephaly, mid-face retrusion, small nose, flattened nasal bridge, upward sloping palpebral
fissures (upward mongoloid slant)
- Macroglossia, delayed tooth eruption
- Associations with heart defects, atlanto-axial subluxation, anemia, increased risk of leukemia
Eagle Syndrome - Dysphagia and pain on chewing/turning head
- Associated with elongated styloid process
Ehlers-Danlos Syndrome - Hyperflexibility of joints
- Increased bleeding and bruising
- Hyperextensible skin
- Underlying molecular abnormality of collagen
- Bleeding common in type IV
- Early onset periodontal disease in type VIII
- Pulp stones in all types
- Frey syndrome (gustatory sweating and flushing)
Frey Syndrome - Gustatory sweating and flushing of the skin
- Follows trauma to skin overlying a salivary gland
- Post-traumatic crossover of sympathetic and parasympathetic innervation
- Frequency following superficial parotidectomy varies (0-100%)
- Almost certainly present in all cases to some degree
- Starch-iodine test for careful detection
Gardener Syndrome - Multiple osteomas (jaws and facial bones)
- Multiple polyps in the large intestine
- Epidermoid cysts
- Fibromas of the skin
- Autosomal dominant inheritance
- Facial osteomas mandate GI examination
- Tendency to rapid malignant change in polyps
Goldenhar Syndrome - Variant of hemifacial microsomia
- Microtia (small ears)
- Macrostomia
- Agenesis of mandibular ramus and condyle
- Vertebral abnormalities
- Epibulbar dermoids
- Cardiac, renal, or skeletal abnormalities possible
Up to 10% of patients may have mental handicap
Gorlin-Goltz Syndrome - Multiple basal cell nevi
- Multiple jaw cysts (odontogenic keratocysts)
- Vertebral and rib anomalies
- Calcification of the falx cerebri
- Frontal bossing
- Mandibular prognathism
- Hypertelorism
- Hydrocephalus
- Eye and endocrine abnormalities
Graves' Disease - Autoantibodies to thyroid-stimulating hormone (TSH)
- Hyperthyroidism with ophthalmopathy
- Common in women aged 30-50 years
- Craniofacial approach for orbital decompression
Heerfordt Syndrome (Uveoparotid Fever) - Sarcoidosis
- Lacrimal and salivary (especially parotid) swelling
- Uveitis
- Fever
- Associated neuropathies (e.g., facial palsy)
Hemifacial Microsomia - Prevalence: 1 in 5000 births
- Bilateral in 20% of cases
- Congenital defect
- Lack of hard and soft tissue on affected side(s)
- Region of the ramus and external ear
- Wide spectrum of ear and cranial deformities
Histiocytosis-X - Three broad groups of diseases
- Tissue infiltration by tumor-like aggregates of macrophages and eosinophils
1. Solitary eosinophilic granuloma
2. Hand-Schuller-Christian disease
3. Letterer-Siwe disease
Horner Syndrome - Constricted pupil (miosis)
- Drooping eyelid (ptosis)
- Unilateral loss of sweating (anhydrosis) on the face
- Sunken eye (enophthalmos)
- Caused by interruption of sympathetic nerve fibers
Hurler Syndrome - Mucopolysaccharidosis
- Growth failure and mental retardation
- Large head, frontal bossing, hypertelorism, and coarse features
- Multiple skeletal abnormalities (dysostosis multiplex)
- Corneal clouding
- Serum and urinary acid mucopolysaccharide abnormalities
Hypohydrotic Ectodermal Dysplasia - Hypodontia found in association with lack of hair, sweating,
and saddle nose
Klippel-Feil Anomalad - Cervical vertebral fusion
- Short neck
- Low-lying posterior hairline
- Neurological anomalies
- Unilateral renal agenesis
- Cardiac anomalies sometimes occur
Larsen Syndrome - Mainly autosomal dominant condition- F>M
- Cleft palate, flattened facies, multiple congenital dislocations, and deformities of the feet
- Short stature
- Larynx may be affected
Lesch-Nyhan Syndrome - Defect of purine metabolism
- Mental retardation, spastic cerebral palsy, choreoathetosis
- Aggressive self-mutilating behavior (particularly involving the lips)
MAGIC Syndrome - Mouth And Genital ulcers and Interstitial Chondritis
- Variant of the Behcet syndrome group
Marfan Syndrome - Autosomal dominant condition
- Tall, thin stature and arachnodactyly (long, thin, spider-like hands)
- Dislocation of the lens
- Dissecting aneurysms of the thoracic aorta
- Aortic regurgitation
- Floppy mitral valve
- High-arched palate
- Joint laxity is also common
Common in basketball players
Melkerson-Rosenthal Syndrome - Facial paralysis, facial edema, and fissured tongue
- Variant of the conditions now known as orofacial granulomatosis
Multiple Endocrine Neoplasia (MEN IIb) - Group of conditions affecting the endocrine glands
- Multiple mucosal neuromas with characteristic histopathology
- Pheochromocytoma
- Medullary thyroid carcinoma
- Thin wasted appearance
- Elevated calcitonin levels if medullary thyroid carcinoma is present
Index of suspicion should be high in tall, thin, wasted-looking children and young adults presenting
with lumps in the mouth.
Orofacial-Digital Syndrome - CLP syndrome
- Associated with hypodontia (laterals especially) and supernumeraries
- Finger abnormalities
Papillon-Lefevre Syndrome - Palmoplantar hyperkeratosis
- Juvenile periodontitis affecting both primary and secondary dentition
- Simultaneous onset of hyperkeratosis and aggressive gingivitis/periodontitis
Patterson-Brown-Kelly Syndrome (Plummer-Vinson Syndrome) - Dysphagia
- Microcytic hypochromic anemia
- Koilonychia (spoon-shaped nails)
- Angular cheilitis
- Post-cricoid web on the anterior esophageal wall
Peutz-Jeghers Syndrome - Autosomal dominant condition
- Melanotic pigmentation of skin and mucosa
- Intestinal polyposis-- no malignancy unlike gardner
- Hamartomatous polyps in the small intestine
- May cause intussusception or other forms of gut obstruction
- Ovarian tumors sometimes associated
Progeria - Collagen abnormality
- Dwarfism and premature aging
- Disproportionately small face with mandibular retrognathia and a beak-like nose
- Death occurs in the midteens
Pterygopalatine Fossa Syndrome - Similar condition to Trotter Syndrome
- First and second divisions of the trigeminal nerve affected
- Specific symptoms may vary
Ramsay Hunt Syndrome - Lower motor neuron facial palsy
- Vesicles on the same side in the pharynx, external auditory canal, and on the face
- Due to herpes zoster of the geniculate ganglion
Reiter Syndrome - Arthritis, urethritis, and conjunctivitis
- Oral lesions resembling benign migratory glossitis
- Probably an unwanted effect of an immune response to a low-grade pathogen
Robin Sequence/ pierre robin syndrome - Micrognathia
- Cleft palate
- Glossoptosis
- Associated with a huge number of anomalies
- Catch-up growth occurs
Romberg Syndrome (Hemifacial Atrophy) - Progressive atrophy of the soft tissues of half the face
- Associated with contralateral Jacksonian epilepsy and trigeminal neuralgia
- Rarely, half the body may be affected
- Starts in the first decade and lasts ~3 years before becoming quiescent
Sicca Syndrome (Primary Sjogren Syndrome) - Xerostomia and keratoconjunctivitis sicca
- ↑ risk of developing parotid lymphoma
- Certain serological abnormalities in common with systemic connective tissue disorders
Stevens-Johnson Syndrome - Severe version of erythema multiforme
- Mucocutaneous condition probably autoimmune in nature
- Precipitated particularly by drugs
- Classical signs: target lesions, concentric red rings on hands and feet
Fever and multiple mucosal involvement. Viral infections, e.g. herpes simplex, are the second
commonest cause.
Stickler Syndrome - Flat mid-face
- Cleft palate
- Myopia
- Retinal detachment
- Hearing loss (80%)
- Arthropathy
- 20% association with cleft palate
Sturge-Weber Anomalad - Hamartomatous angioma affecting upper face
- May extend intracranially
- Associated with convulsions, hemiplegia, intellectual impairment
- Risks of surgery are obvious
Treacher-Collins Syndrome (Mandibulofacial Dysostosis) - Defects in structures derived from the
first branchial arch
- Autosomal dominant inheritance
- Downward-sloping palpebral fissures (antimongoloid slant)
- 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
- Normal intellectual function often overlooked due to physical appearance
- Prime indication for corrective 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 a malignant tumor
von Recklinghausen Neurofibromatosis/Syndrome - Multiple neurofibromas
- Skin pigmentation
- Skeletal abnormalities
- CNS involvement
- Predisposition to malignancy
- Autosomal dominant transmission
- Large and varied number of manifestations
- Lesions of the face can be particularly disfiguring