Syndromes of head and neck region and their unique clinical features
Syndromes of head and neck Albright syndrome:

– Polyostotic fibrous dysplasia (multiple bones affected)
– Patchy skin pigmentation (café au lait)
– Endocrine abnormality
– Facial asymmetry in 25% of cases
Apert syndrome:

- Is rare develpmental deformity
- Craniosynostosis (premature fusion of sutures)
- Syndactyly (fusion of fingers or toes)
- Severe Mid-face retrusion
- lead to exophthalmus
Behcet syndrome:
- Oral, genital ulcers & uvietis
- young males
- associated with HLA-B5
- treated with thalidomide

Binder syndrome:

- Maxillo-nasal dysplasia
- Severe Mid-face retrusion
- Absent or hypoplastic frontal sinuses

Caplan Syndrome: (in lungs of a Rheumatoid Arthritis patient)
- Nodular Pulmonary fibrosis in a patient with R.A. who is exposed to various industrial ducts
Carpal tunnel Syndrome:
- In Reumatoid arthritis & also with Acromegaly due to compression of medial n.)
- Atlastoaxial subluxation (due to weakening of the transverse ligament of Atlas) may lead to neurological abnormalities
- Polyneuropathy
Chediack-Hegashi syndrome: (Genetic disease)
- defective neutrophil function so, increase susceptibility to infection (leading to severe gingivitis, periodontitis & aphthae in young children)
- abnormal skin pigmentation
Cleidocranial dysostosis:( Autosomal dominant )

hypoplasia or aplasia of clavicles
- short stature, large short skull
- delayed ossification of cranial fontanelles
- frontal bossing, mid-face hypoplasia
- high arched palate or clefting
- delayed eruption of teeth with multiple supernumerary teeth
Cri du chat syndrome:

Chromosomal abnormality (caused by deletion of short arm of chromosome no.5)
- microcephaly
- hypertolorism
- round face, broad nasal bridge, malformed ears
- severe mental retardation
- laryngeal hypoplasia : characteristic shrill cry
Crouzon syndrome:
- the commonest of craniosynostoses
- autosomal dominant
- premature closure of cranial sutures
- increase intracranial pressure : cerebral damage
- midface hypoplasia, shallow orbit, proptosis of eyes
- Radiographically: characteristic ‘beater copper skull’
Digeorge Syndrome “Thymic hypoplasia” : (1ry immune deficiency)

- Failure of development of 3rd & 4th branchial pouches “thymus”
- T-cell defiency
- Tetany, congenital defects of heart and great vessels
- Recurrent fungal infections (oral candidiosis)
- Recurrent Viral infections (herpes)
- Eitiology: Intrauterine damage at 8 w.i.u.
- need “Thymus transplant”
Down syndrome: ( trisomy 21 )

- the commonest of all malformation syndrome
- 1 : 6000 of birth, increase with increase of maternal age
- severe mentally handicapped child
- midface retrusion,facial clefts
- upward sloping palpebral fissures (mongoloid slant)
- small nose with flattened nasal bridge
- shortened palate,cleft lip or palate
- macroglossia, tongue clefts
- delayed eruption of teeth
- heart defects, atlantoaxial sublaxation
- extremely friendly and cooperative
Eagle syndrome:
- dysphagia & pain in chewing and turning the head
- elongated styloid process

Ehlers-Danlos syndrome:
- abnormality of collagen
- increased bleeding & bruising (bleeding is common in type IV)
- hyperflexibility of joints, recurrent TMJ dislocation
- hyperelasticity of skin
- small teeth with short roots – common pulp stones
- early onset periodontal dis. in type VII
Felty’s syndrome: (in Rheumatoid Arthritis)

- palpable lymph nodes
- enlarged spleen
- neutropenia
Frey syndrome:

- follows trauma to skin overlying salivary gland
- due to crossover symp.& parasymp. innervation of skin & gland
- may follow parotidectomy
- gustatory sweating & flushing of skin
Gardener syndrome: (autosomal dominant)

- multiple osteomas of jaws & facial bones
- multiple polyps of large intestine (polyposis coli) which have a tendency to rapid malignant change
- multiple epidermoid cysts
- multiple impacted perm. & supernumerary teeth
Goldenhar syndrome: (variant of hemifacial
- microtia (small ears)
- macrostomia
- agenesis of mandibular ramus & condyle
- 10% may be handicapped
Gorlin-Goltz syndrome: (multiple basal cell naevi/jaw cysts syndrome)
multiple basal cell carcinoma ‘naevi’ in skin (epitheliomas)
- multiple odontogenic keratocysts of jaw
- mandibular prognasthism
- cleft lip, palate in 5%
- vertebral-rib anomalies
- due to mutation of PTCH ‘patched tumor suppressor gene’
Graves’ disease: (Autoimmune disease)
- Abnormal presence of thyroid-stimulating
- Immunoglobulin which stimulate both secretion & Growth of thyroid gland
- hyperthyroidism
- ophthalmopathy (bulging eyes)
- 2-5% of Women 30-50y commonly affected
Heerfordt syndrome: (uveoparotid fever)
- is sarcoidosis with lacrimal, salivary swelling ‘esp. parotid’
- uvitis – bilateral
- fever
- neuropathies (e.g. facial palsy)
Hemifacial microsomia :
- 1 :5000 birth «congenital»
- lack of hard & soft tissues in the affected side
- usually at ramus & external ear (1st &2ed branchial arches)
Histocytosis-X :
- Histological features of infiltration by macrophages & eosinophils 3 broad groups of diseases :
- Solitary eosinophilic granuloma «mandible in males <20y
- Hand-Schuller-Christian disease «multifocal eosinophilic granuloma causing skull lesions & affect younger groups»
- Letterer-Siwe disease <rapidly progressive, pancytopenia, can be fatal>
Horner Syndrome :
- Consticted pupil « miosis »
- Drooping eyelid « ptosis »
- Unilateral loss of sweating « anhydrosis » on the face
- Caused by interruption of symp.nerve fiber at the cevical ganglion
Hurler Syndrome :
- Mucopolysaccharides causing growth failure, mental retardation
- Large head, frontal bossing
- Multiple skeletal abnormalities
- Serum & urinary acid mucopolysaccharides abnormalities
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Hypohydrotic ectodermal dysplasia :
– Hypodontia
– Lack of hair (hypotrichosis)or sparse hair
– Decreased Sweating (hypohydrosis)
Klippel-Feil anomalad :
- Cervical vertebral fusion
- Short neck
- Low-lying posterior hairline
- Some neurological anomalies
Larsen syndrome : (Autosomal dominant condition)
Prediliction to females
- Cleft palate
- Flatenned facies
- Deformities of feet
- Short stature
Lesch-Nyhan syndrome :
Defect in purine metabolisim, causing :
- Mental retardation
- Cerebral palsy
- Self mutilating behaviour (particularly lips)
MAGIC Syndrome :
– stands for Mouth And Genital ulcers & Interstitial chondritis
– A varient of Behcets syndrome
Marfan Syndrome :
- Autosomal dominant condition
- Tall-thin stature
- Arachnodactyly « long-thin hands »
- Aortic regurgitation & floppy mitral valve
- Dislocation of the lens
- High arched palate
- Prelevant among basketball & volleyball players
Melkerson-Rosenthal Syndrome : (orofacial granulomatosis)
– Facial paralysis
– Facial oedema
– Fissured tongue
Multiple endocrine neoplasia : ‘MEN’
- Group of conditions affecting endocrine glands
- Index of suspicion shold be : high in tall, thin, wasted-looking children & young adults with lumps in the mouth
Orofacial-digital Syndrome :
- One of many CLP syndromes
- Hypodontia « especially laterals »
- Supernumerary teeth
- Digital « finger » abnormalities
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Papillon-Lefevre Syndrome :
Palmoplunter Hyperkeratosis
– Juvenile periodontitis (prim.&perm. teeth)
- Hyperkeratosis of palms and soles
- Aggressive gingivitis, periodontitis « after teeth eruption only »
Patterson-Brown-Kelly Syndrome
« Plummer-Vinson Syndrome » : (a form of iron defiecency aneamia)
- Dysphagia (due to atrophy of mucous membrane of mouth,pharnx, oesophygus)
- Koilonychia « spoon nails »
- Hyperkeratosis of palms & soles
- Angular chelitis
Peutz-Jeghers Syndrome :
- Autosomal dominant
- Melantic pigmentation of skin « peri-oral » & mucosa
- Intestinal polyps (small intestine) have no tendancy to malignant change (unlike Gardener syndrome)
- 10% of women are affected
Progeria :
- Collagen abnormality
- Causing Dwarfisim
- Premature aging, death occurs in mid-teens
- Disproportion between small face & beak-like nose
Ramsay Hunt Syndrome :
- Lower motor neuron facial palsy
- Vesicles in the same side in face & pharynx
- Thought to be due to heres Zoster
Reiter Syndrome :
– Arthritis
– Urithritis
– Conjunctivitis
– Oral lesions which resemble benign migratory glossitis in appearance but affect other parts in the mouth
Robin Sequence « Pierre Robin » :
- structures derived from 1st arch
- Micrognathia (Mandibular hypoplasia)
- Cleft palate
- Eye & ear defects
Romberg Syndrome « Hemifacial atrophy » :
– Atrophy of soft tissues of half of the face associated with contralateral
Jacksonian epilepsy & trigeminal neuralgia
Sicca Syndrome « 1ry Sjogren Syndrome » :
– Xerostomia
– Keratoconjunctivitis sicca « dry mouth, dry eyes »
– High risk of parotid lymphoma
Sjogren Syndrome « 2ry Sjogren Syndrome » :
– Dry eyes & dry mouth
– Autoimmune condition « Rheumatoid arthritis + SLE »
Stevens-Johnson syndrome :
- Severe version of erythyma multiform
- Mucocutaneous condition which is autoimmune in nature & preciptated by drugs or viral inf.
- Concentric red rings affects hands and feet
- Multiple mucosal involvement
Stickler syndrome:
– Commonest syndrome with cleft palate (20%)
– Myopia & retinal detachment
– Flat mid face
– Hearing loss (80%) 30% of Robin sequence patients have Stickler synd.
Sturge Weber syndrome:
- Hamartomatous angioma affecting upper part of face associated Convulsions ( haemangioma in meningies causing mental defect )
Treacher-Collins syndrome “mandibulofacial dysostosis” :
Autosomal dominant triat (single-gene defect)
(New mutation in 60% of cases)
– Defects in structures derived from 1st brancial arch
– Antimongoloid slant (downward sloping of palpebral fissures)
– Notching of lower eyelids
- Mandibular retrognathia with high gonial angle
- Hypoplastic air sinuses
- Middle & inner ear deafness
- 30% have Cleft palate
- 25% have tongue-like projections of hair pointing towards the cheek
Trotter Syndrome:
– Unilateral deafness
– Pain in mandibular division of trigeminal nerve
– Ipsilateral immobility of palate & trismus due to invasion of the lateral wall of the nasopharynx by malignant tumor
N.B: pterygopalatine fossa syndrome is similar condition in which 1st & 2ed divisions of the trigeminal are affected
Von Recklinghausen neurofibromatosis Syndrome:
(Autosomal dominant)
- Multiple neurofibromas
- Skin pigmentation
- Skeletal abnormalities
- CNS involvement
- Predisposition to Malignancy
Wiskott Aldrich Syndrome:
- Immune deficiency with thrombocytopenia & Eczema
- Although thymus is normal there is continuous decrease in T-lymphocytes. (Multiple infections)
- Purpuric spots on oral mucosa
- Eitiology: absence of sialoglycoprotien from the surface of lymphocytes & platelets due to mutation of chromosome 16
Syndromes associated with Cleft lip and palate: (CLP)
– Patau syndrome (Trisomy 13) multiple brain & other organs defect (early death) Up to 70% of cases with CLP
Down syndrome (Trisomy 21) 1:200 patients with CLP
- Gorlin-Goltz syndrome (5%)
- Orofacial- Digital syndrome
With Cleft Palate:
- Stickler syndrome (20%)
- Treacher-Collins syndrome (30%)
- Robin sequence
- Larsen syndrome
Syndromes associated with Supernumerary teeth:
- Cleidocranial dysostosis
- Gardener syndrome
- Orofacial- Digital syndrome
Syndromes associated with Delayed eruption of teeth:
- Cleidocranial dysostosis
- Down syndrome (delayed eruption also associated with: – Cretinism – Rickets ”uncommon now”
- Hereditary gingival fibromatosis
- Cherubism
Syndromes associated with Hypodontia:
- Hypohydrotic ectodermal dysplasia
- Down syndrome (one or more third molar are missed in 90%)
- Orofacial- Digital syndrome
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[…] inheritance pattern of the Pierre-Robin syndrome is not exactly known. There is a possibility that the condition may be inherited as an autosomal […]
[…] Syndromes of head and neck region and their unique clinical features […]
[…] Syndromes of head and neck region and their unique clinical features […]
[…] Syndromes of head and neck region and their unique clinical features […]