By

Dr. Hadi Zahid Rao

Syndromes
Definition

 A recognized pattern of malformation,

presumed to have the same etiology but not
interpreted as the result of a single localized
error in morphogenesis.
List of syndromes
1. Albright
2. Behcet
3. Cleidocranial dysplasia
4. Down
5. Gardener’s
6. Gorlin-Goltz
7. Hypohydrotic ectodermal dysplasia
8. Patterson-Brown-Kelly( Plummer-Vinson)
9. Peutz-Jeghers
10. Ramsay Hunt
11. Reiter
12. Robin sequence
13. Sicca
14. Sjogren
15. Stevens-Johnson
16. TMPD( temporomandibular pain dysfunction)
17. Treacher-Collins
Albright Syndrome

 Polyostotic fibrous dysplasia

 Café-au-lait spots
 Endocrine abnormality
 Facial asymmetry-25% of cases
Albright syndrome
Albright syndrome
Behcet syndrome

 Oral ulceration
 Genital ulceration
 uveitis
Behcet syndrome
Cleidocranial dysplasia

 Hypoplasia/ aplasia of clavicles

 Delayed ossification of cranial fontanelles
 Mid-face hypoplasia
 Frontal and parietal bossing
 Failure of tooth eruption with supernumerary
teeth
 May or may not have cleft palate
Cleidocranial dysplasia
Cleidocranial dysplasia
Down syndrome

 Mentally retarded
 Brachycephaly
 Mid-face retrusion
 Small nose with flattened nasal bridge
 Upward sloping palpebral fissures
 Relative macroglossia
 Delayed eruption of teeth
Down syndrome
Gardener’s syndrome

 Multiple osteomas
 Multiple polyps of large intestine
 Epidermoid cyst
 Fibromas of the skin
Gardener’s syndrome
Gardener’s syndrome
Gardener’s syndrome
Gorlin-Goltz syndrome

 Multiple BCCs
 Odontogenic keratocysts
 Vertebral and ribs anomalies
 Calcification of falx cerebri
 Frontal bossing
 Mandibular prognathism
Gorlin-Goltz syndrome
Gorlin-Goltz syndrome
Hypohydrotic ectodermal dysplasia

 Hypotrichosis
 Hypohydrosis
 Saddle nose
 Hypodontia/ anodontia
Hypohydrotic ectodermal dysplasia
Patterson-Brown-Kelly syndrome

 Also known as Plummer-Vinson syndrome

 Dysphagia due to post-cricoid web
 Microcytic hypochromic anaemia
 Koilonychia
 Angular cheilitis
Patterson-Brown-Kelly syndrome
Peutz-Jeghers syndrome

 Melanotic pigmentation of skin and mucosa

 Polyps of small intestine
 Ovarian tumors-10% of women
Peutz-Jeghers syndrome
Ramsay Hunt syndrome

 Lower motor neuron facial palsy

 Vesicles on same side of pharynx, external
auditory canal, face
Ramsay Hunt syndrome
Reiter syndrome

 Arthritis
 Urethritis
 Conjunctivitis
 Oral lesions resembling benign migratory
glossitis
Reiter syndrome
Robin Sequence

 Micrognathia
 Cleft palate
 glossoptosis
Robin Sequence
Sicca syndrome

 Primary Sjogren syndrome

 Xerostomia
 Kerato conjunctivitis
 Increased risk of developing parotid
lymphoma
Sjogren syndrome

 Secondary Sjogren syndrome

 Dry eyes
 Dry mouth
 Autoimmune condition( usually rheumatoid
arthritis, but sometimes SLE, systemic
sclerosis or primary biliary cirrhosis)
Sjogren syndrome
Stevens-Johnson syndrome

 Severe form of erythema multiforme

 Skin and oral, genital and ocular mucosae
 Autoimmune
 Precipitated mainly by drugs
Stevens-Johnson syndrome
TMPDS

 Pain in preauricular region

 Trismus
 Tender muscles of mastication
 With/ without internal derangement of the
meniscus
TMPDS
Treacher-Collins syndrome

 Defects in structures derived from 1st brachial

arch
 Malar hypoplasia
 Down-slanting palpebral fissures
 Defects of lower eyelids
 Deformed external ears
Treacher-Collins syndrome