syndromes of head and neck

Syndromes Of The Head & Neck

notes by vivek rao

Syndrome: 

A group of malformations, deformations and malformation sequences, etc. that occur together due to some identifiable underlying cause

Classification of Craniofacial Deformities 

1) Clefts

2) Synostosis

3) Atrophy/hypoplasia 

4) Neoplasia/hyperplasia 

5) Unclassified 

• American Cleft Palate Association 1981*

Craniofacial Clefts 

a)Failure of fusion of facial process 

b)Cleft lip—failure of fusion of median nasal process and maxillary process.

Syndromes associated with cleft lip and palate 

1. Pieere Robin 
2. Treacher Collins 
3. Nager’s Acrofacial Dysosotosis 
4. Goldenhar,’s Syndrome 
5. Mobius Syndrome 
6. Hallerman Streiff Syndrome

Pierre Robin Syndrome

 Micrognathia 

Glossoptosis( under develoment of jaw-little support of tongue musculature-downward & backward fall of tongue) 

Cleft palate

Etiology 

 Unclear etiology 

 poor development of the jaw at about the 6th to the 11th week of fetal life

Other Clinical features 

Facies-Andy Gump chin, bird facies 

CVS-congenital murmurs, patent PDA 

Eyes & Ears-cataract, esotropia, glaucoma, microopthalmia, deformed pinna , deafness 

CNS-mild to moderate mental retardation

Pierre Robin Sequence 

Airway management in newborn-medical emergency 

    a)Tracheostomy 

    b)Distraction osteogenesis 

Cleft palate repair 

Subsequent orthodontic treatment and orthognathic surgery

Sequence (PRMS): Associated Syndromes 

Stickler syndrome: 

PRMS, high myopia with vitreo- retinal degeneration, flat midface, mild epiphyseal dysplasia; autosomal dominant inheritance 

 Velo-cardio-facial syndrome (aka di George): PRMS, characteristic facial appearance, conotruncal cardiac defects, etc.; due to deletion 22q11.2.

Treacher-Collins syndrome 

Franceschetti and Klein, who extensive reviewed the essential components of the condition, used the term mandibulofacial dysostosis to describe the clinical features. 

Treacher Collins-Franceschetti syndrome 1 (TCOF1) was the other named of the syndrome. 

TCOF1 gene found on chromosome 5q (TREACLE gene)

The anomalies was due to the defects of the first and second branchial arches, clefts, and pouches during early embryonic development 

: 1. Abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Bil. Conductive hearing loss is common.

2. Hypoplasia of the facial bones, especially mandible and zygomatic complex. 

3. Antimongoloid slanting of the palpebral fissures with colobomata of the lower eyelids and a paucity of lid lashes medial to the defect. 

4. Cleft palate .

Treatment:

 Infancy

          Airway 

           Swallowing, 

           Feeding 

           Hearing 

           Vision 

           Cleft palate 

           management 

           Macrostomia repair

>7yr Orbito-Zygomatic region On-lay bone graft

Ancillary Procedures

 Soft tissue augmentation 

Corrective bone surgery

Craniosynostosis 

• Craniosynostosis is defined as the premature fusion of the cranial sutures
• 100 BC, Hippocrates: Abnormal head shape with cranial suture involvement
• 1851, Virchow: Craniosynostosis 
• 1999, Alden: compensatory growth to one side of suture

Incidence: 1/2000 

Syndormic or Isolated 

Hereditary: isolated: 2%, syndromic 50%

Craniosynostosis 

Primary craniosynostosis: a primary defect of ossification 

 Secondary craniosynostosis: a failure of brain growth, more commonly 

Syndromic craniosynostosis: display other body deformities

Scaphocephaly - Early fusion of the sagittal suture

Ant. plagiocephaly - Early fusion of 1 coronal suture Post. plagiocephaly - Early closure of 1 lambdoid suture

Brachycephaly - Early bilateral coronal suture fusion

Trigonocephaly - Early fusion of the metopic suture

Crouzon Syndrome 

 Autosomal dominant, 50% due to spontaneous mutations, complete penetrance, variable expresivity 

Due to mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26) 

No Syndactyly or cervical fusion 

 Usually normal intelligence

Crouzon Syndrome Midface (maxillary) hypoplasia Exophthalmos secondary to shallow orbits Ocular hypertelorism Nose: Beaked appearance Mouth: Mandibular prognathism Narrow, high, or cleft palate and bifid uvula

  Apert (acrocephalosyndactyly) 

• Autosomal dominant, most cases due to spontaneous mutation 
• Due to a mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene (10q26)

Clinical Features 

Brachycephaly 

Flat face 

Hypertelorism, 

strabismus, 

ocular muscle palsies 

Moderate to severe exorbitism, short zygomatic arch 

Narrow palate +/- cleft 

Bony syndactyly of bilateral hands 

Fusion of four fingers 

Spared thumb with broad distal phalanx

Cutaneous or bony syndactyly of toes

Apert (acrocephalosyndactyly) 

additional feature of syndactyly.

Apert Syndrome 

Extremities and digits 

•             Syndactyly involves the hands and feet with partial-to- complete    fusion of the digits 
•             Upper limbs are affected more severely

Central nervous system 

Intelligence varies from normal to mental deficiency 

Papilledema and optic

Apert Syndrome 

Skin 

Hyperhidrosis (common) 

Cardiovascular (10%) 

ASD, PDA, VSD, PS, Overriding aorta, CoA, Dextrocardia, TOF, Endocardial fibroelastosis 

Genitourinary (9.6%) 

Polycystic kidneys, Duplication of renal pelvis, etc.. 

Gastrointestinal (1.5%) 

Pyloric stenosis, Esophageal atresia and tracheoesophageal fistula, etc.. 

 Respiratory (1.5%) 

Anomalous tracheal cartilage, Tracheoesophageal fistula, Pulmonary aplasia, Absent right middle lobe of lung, Absent interlobular lung fissures

Pfeiffer Syndrome 

Skull is prematurely fused and unable to grow normally 

Bulging wide-set eyes due to shallow eye sockets (occular proptosis) 

Underdevelopment of the midface 

Broad, short thumbs and big toes 

Possible webbing of the hands and feet

Saethre-Chotzen Syndrome 

autosomal dominant inheritance pattern 

Craniosynostosis 

low-set frontal hairline 

ptosis of the upper eyelids 

facial asymmetry 

brachydactyly, 

partial cutaneous syndactyly 

mild syndactyly involving only soft tissue of index and middie fingers 

cryptorchidism; renal anomalie

Carpenter's Syndrome 

Head and neck: Craniosynostosis first involving the sagittal and lambdoid sutures later extending to the coronal sutures. Cloverleaf skull may occur 

Ears: Low set ears and preauricular fistulae. 

Eyes: Hypertelorism, mildly downward slanting of the palpebral fissures, epicanthic folds, microcornea, corneal opacity, and optic atrophy 

Nose: Flat nasal bridge. 

Obesity 

Mouth and oral structures: A narrow or highly arched palate. 

Hand and foot: The fingers are short and stubby with agenesis of the middle phalanges and soft tissue syndactyly, especially of the third and fourth fingers. 

Cardiovascular system: About one third of all cases 

Growth and development: Growth retardation is a constant feature. Mental retardation is common but not constant.

Cloverleaf Skull Syndrome 

Kleeblattschädel (ie, cloverleaf skull) results from fusion of all sutures except the metopic and squamosal sutures, giving the head a cloverleaf appearance

Cloverleaf Skull Syndrome 

Cloverleaf skull or kleeblattschadel is a rare malformation caused by synostosis of multiple cranial sutures. 

It can be associated with hydrocephalus, proptosis, and hypoplasia of the midface and cranial base

Cloverleaf Skull Syndrome 

Many syndrome present with cloverleaf skull including most of the acrocephalopolysyndactylies (Crouzon, Pfeiffer, Carpenter, Apert…) 

It is also typical of the type II form of thanatophoric dysplasia (another FGFR mutation).

Indications of Surgery 

Intracranial hypertension 

• Multiple suture: 42% 
• Single suture 13% 

Myriad neuropsychiatric disorders 

• Behaviour disturbance 
• Mental retardation 
• Psycho-social considerations

The major goals of treatment include 

1. Preventing brain compression, optic nerve compression/cornea injury, and psychosocial problems. 
2. Promoting normal development of craniofacial structures such as brain, skull, facial bones, and muscle. 
3. Decreasing craniofacial malformities by establishing nearly normal appearance including facial symmetry, facial proportion, and facial balance. 
4. Improving breathing via increased nasopharyngeal and oropharyngeal airway space.

Timing of treatment 

The timing of reconstruction is divided into three major steps that are referred to as ‘‘staged reconstruction.’’ 

1. Primary cranioorbital decompression-cranial vault reshaping in infancy; supraorbital rim advancement (ORA), anterior cranial vault reconstruction (ACVR), and posterior cranial vault reconstruction at 6 to 12 months up to 2 years. 
2. 2. Management of midface deformity in childhood (5–7 years). 
3. 3. Management of the jaw deformity and malocclusion in adolescence (13–18 years).

Five levels of Tessier’s craniofacial framework. 

Level A, cranial vault. 

Level B, orbitofrontal unit. 

Level C, lower orbit with body of mixilla and zygomas. 

Level D, upper jaw. Level 

E, mandible.

classification of craniofacial synostosis 

Tessier’s classification Levels of malformation 

Class 1: isolated cranial vault dysmorphism level A 

Class 2: syndromic orbitocranial dysmorphism level B 

Class 3: asymmetric orbitocranial dysmorphism levels B and C 

Class 4: Saethre-Chotzen group levels A–C 

Class 5: Crouzon group levels A–D 

Class 6: Apert group levels A–E

Surgical treatments related to level of malformation 

Surgical malformation                                               Level of Malformations 

primary craniotomies                                                                   A 

1. anterior cranial vault reconstruction 
2. posterior cranial vault reconstruction 
3. strip craniotomy 

orbitofrontal unit reconstruction 

1. rotation for correction of frontonasal angle                            B 
2. 2. anteroposterior correction 
3. 3. transverse correction: widening or narrowing

midface hypoplasia and normal upper face 

1. extracranial LeFort III osteotomy/distraction                          C 
2. 2. LeFort II osteotomy/distraction 
3. 3. augmentation 

midface hypoplasia and abnormal upper face 

1. monobloc procedure 

2. one-stage procedure: ACVR/ORA and LeFort III osteotomy 

3. two-stage procedure: ACVR/ORA and LeFort III osteotomy 

hypertelorism 

1. bifacial partition procedure 

2. intracranial four-wall osteotomy 

maxillary procedures [2,3]                                                             D 

mandibular procedures [2,3]                                                         E

Craniofacial Microsomia 

Pruzansky reported a grading system of progressive mandibular deficiency: grade I, minimal hypoplasia of the mandible 

         grade II, functioning but deformed temporomandibular joint with anteriorly and medially displaced condyle 

         grade III, absence of the ramus and glenoid fossa.

A `New Classification Based on the Kaban’s Modification for Surgical Management of Craniofacial Microsomia Jose Rolando Prada Madrid, M.D.,1 Giovanni Montealegre, M.D, and Viviana Gomez, M.D. Craniomaxillofac Trauma Reconstruction 2010;3:17.

Goldenhar Syndrome 

Oculo-Auriculo-Vertebral Dysplasia 

Bilateral involved 

Sporadic with weak genetic component

 Prominent frontal bossing 

Low hairline 

Mandibular hypoplasia 

Low-set ears 

Colobomas of upper eyelids 

Epibulbar dermoids 

Accessory auricular appendages, bilateral and anteriorly 

Vertebral anomalies

Goldenhar Syndrome (Oculoauriculovertebral spectrum) This 5-year-old boy has facial asymmetry and right microtia.

Binders Syndrome 

MaxilloNasal dysplaisa 

Von Binder 1962 

short nose with flat bridge 

absent anterior nasal spine 

limited nasal mucosa 

short columella 

acute nasal labial angle 

perialar flatness 

couvex upper lip 

tendency to class II oclusion

Treatment 

Correction of Hypotelorism 

LeFort I or LeFort II advancement 

Inferior orbital rim / miface augmentation 

Augmentation rhinoplasty

SYNDROMES ASSOCIATED WITH CRANIAL NERVES

Sturge-Weber Syndrome (Encephelotrigeminal angiomatosis) 

Present at birth with seizure and large port-wine birthmark on side of face 

Capillary malformation of the ophthalmic division of the trigeminal nerve. 

Associated with vascular malformations of the leptomeninges, leads to ischemic atrophy and cortical calcification 

Clinically causes seizures, focal neurologic deficits, developmental delay

Management 

• Pulsed dye laser for treatment of stain 
• • Seizures managed with anticonvulsants, difficult 
• • Glaucoma responsive to medical therapy only 
• 50% of time, surgery or laser used

Moebius Syndrome (Congenital Facial Diplegia) 

Expressionless Face 

absence or underdevelopment of the 6th and 7th cranial nerves 

First symptom, present at birth, is an inability to suck. 

Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression;; eye sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties.

Melkersson Rosenthal Syndrome 

Recurrent attacks of facial paralysis 

Noninflammatory painless facial edema 

Cheilitis granulomatotis 

Fissured Tongue

Chromosomal Abnormalities 

Caused by too much or too little chromosomal material 

Down syndrome (trisomy 21) 

Turner syndrome (45,X) 

Williams syndrome (del 7q11.23)

Down Syndrome 

Craniofacial Features: 

Brachycephaly 

Flat occiput 

Abnormal small ears 

Upslanting palpebral fissures 

Epicanthic folds 

Short small nose 

Midface hypoplasia 

Large fissured lips 

Large fissured tongue 

Dental abnormalities 

Short neck 

Atlantoaxial subluxation & instability

Marfan’s Syyndrome 

Tall, long arms/fingers/toes –Arachanodactlyly 

Eye dislocation/or cataracts 

scoliosis 

aorta- weak and stretched 

Sleeping/breathing problems 

Stretch marks 

High arched palate 

Micrognathia

Cleidocranial Dysostosis-Marie Sainton’s Disease 

•In the absence of clavicles, the patient can bring the shoulders forward towards the midline. 

•underdeveloped maxilla.

• Postero-anterior skull radiograph shows delayed closure of sutures and fontanelles, 
• presence of multiple wormian bones. 
• Multiple supernumerary teeth

Ellis-van Creveld Syndrome (EVCS): 

Clinical Features 

Skeletal dysplasia with short extremities & stature 

Axial polydactyly 

Ectodermal dysplasia with nail hypoplasia and oral anomalies 

Congenital heart defects in 60% (single atrium) 

AKA chondroectodermal dysplasia

Ellis-van Creveld Syndrome (EVCS) Oral and Dental Features 

Neonatal teeth 

Partial anodontia 

Small teeth 

Delayed eruption 

Thickened oral frenula, with upper lip bound to alveolar ridge