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 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 3^rd & 4^th 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 (1^st &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 1^st 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 1^st & 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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