Common Syndromes PDF

Common Syndromes and developmental anomalies found in Head and Neck region

Important definitions

Malformation definition

A morphologic defect of an organ, part of an organ or large area of the body resulting from a developmental abnormality (intrinsic).
Eg: Cleft lip

Deformation definition

Abnormal form of the body part due to mechanical forces.

Disruption definition

Defect of an organ, part of an organ or large area of the body due to interference with a normal developmental process.
Eg: Amneotic bands leads to amputation


Multiple defects occur as a result of single presumed structural abnormality.
Eg: Pierre Robin’s Sequence


Combination of signs and/or symptoms that forms as a distinct clinical picture indicative of a particular disorder.
Eg: Down’s syndrome

Common Syndromes and developmental anomalies found in Head and Neck region

  • Cleft lip and palate
  • Valocardiofacial syndrome
  • Pierre Robin’s syndrome
  • Treacher Collins syndrome
  • Golden har syndrome
  • Apert and Crouzen syndrome

Approch to diagnosis

There are over 3000 known syndromes. But only very few are found in common during dental practice. idea of this post is to explain important clinical features of commonly found syndromes and their implication on dental practice.
History plays a major role in diagnosis of a developmental anomaly. Under history these factors are of uttermost important in diagnosis.

  • Medical pedigree
  • Maternal and paternal age
  • Consanguinity
  • Previous abortions
  • Teratogens (Fetal alcohol syndrome)

These factors should be thoroughly examined during physical examination

  • Compare siblings and other family member’s photographs
  • Major and minor abnormalities
  • Isolated minor anomalies (15%)
  • More than 3 minor anomalies with major anomalies (90%)
  • Mental retardation associated

Down’s syndrome

Etiology: nondisjunction mutation resulting in trisomy of 21 chromosome.
Prevalence 1:700
Down’s syndrome is the most common chromosomal abnormality.
It is associated with maternal age more than 37 years.

Common Syndromes

Common Syndromes

Common Syndromes

Facial characteristics
  • Macroglossia
  • Micrognathia
  • Midface hypoplasia (Class III)
  • Flat occiput
  • Flat nasal bridge
  • Epicanthal fold
  • Up slanting palpebral fissures
  • Progressive enlargement of lips
Airway concerns

Due to midface hypoplasia

Obstructive sleep apnoea

Prevalence: 54-100% down’s patients.
As a combination of anatomic and functional mechanisms.(midface hypoplasia,macroglossia, etc. and hypotonia of pharyngeal muscles)

Cardiovascular abnormalities found in 40% down’s patints.

ASD,VSD, Tetralogy of fallot’s, PDA

Gastrointestinal abnormalities found in 10-18% of down’s patients.
Malignancies are associated with some down’s cases

Valocardiofacial Syndrome (VCFS)

  • Autosomal dominant condition. Velocardiofacial syndrome (VCFS) is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart.
  • Etiology:  by deletion of chromosome 22
  • Clinical Features: congenital heart diseases, hyper nasal speech, and cleft palate
  • Basicranial angle flexion- Therefore longer face
  • Puffy eyelids
  • Vascular anomalies are very common
  • Anomalies of the head and neck region are common.

Treacher collin’s syndrome

  • Autosomal dominant condition
  • 60% are from new mutation
  • Characteristics: likely due to abnormal migration of neural crest cells into first and second branchial arch structures.
  • Usually bilateral and symmetrical
  • Down slanting eyebrows and palpebral fissures
  • Retruded mandible

Common Syndromes

Apert and Crowzen’s syndromes

  • Belong to family of craniosynostosis
  • Apert’s syndrome is also called as Acrocephalosyndactyly
  • Facial Characteristics:
    • Craniosynostosis (coronal sutures fused at birth and head circumference is larger than the average head circumference.
    • Hypertelorism
    • Shallow orbits with Exopthalmus
    • Maxillary hypoplasia causing retruded midface with relative prognathism.
    • Beaked nose
    • Downward slanting palpebral fissures
    • Syndactyly
  • Airway concerns
  • Treatment
    • Fronto orbital advancement surgery can be done and get good protection to eyes. Syndactyly can be corrected with surgical reconstruction.

Pierre Robin’s syndrome

  • Characterize by triad of micrognathia, Glossoptosis, Cleft palate.
  • 80% syndromic

Common Syndromes

  • Mechanism of cleft palate formation
    • Mandibular deficiency causes hypoplastic and retruded mandible (Micrognathia). Therefore Tongue remains retruded and high in oropharynx causing failure of fusing lateral palatal shelves. This results in cleft palate.
    • Airway obstruction is a marked feature.
    • Pierre Robin’s syndrome can be associated with other anatomic and neuromuscular components.
  • Airway management
    • Temporizing modalties
    • Prove positioning
    • Nasopharyngeal airway
    • Mandibular traction devices
    • Tongue lip adhesion.
    • Tracheostomy done if above not worked
    • Distraction osteogenisis can be done in infants

Goldenhar syndrome

  • Features
    • Facial asymmetry and ear deformity.
    • Vertebral malformations
    • Uppereyelid coloborma
    • Auricular malformations
    • EAC stenosis
    • Vascular anomalies during fetal life
    • Unilateral craniofacial malformations
    • 1st and 2nd arch defects

Common Syndromes

  • Other concerns
    • Hearing concerns in greater than 50% patients
      Sensoneural occationally.