Syndromes of head and neck region and their unique clinical features


    Syndromes of head and neck region and their unique clinical features

    Table of Contents

    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

    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

    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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