Summary Card
Definition
A genetic syndrome with bilateral abnormalities of the first and second branchial arches combining Tessier cleft numbers 6-9.
Aetiology
Sporadic or autosomal dominant inheritance of variable penetrance. TCOF1 is the commonest genetic mutation.
Clinical Features
Pathology of the first and second branchial arches results in deficiencies and excess in bone and soft tissue of the face.
Management
In the acute setting, airway and nutrition are the focus. Longer-term reconstruction focuses on ocular, auricular and mandibular treatments.
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References
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Definition of Treacher Collins Syndrome
Treacher Collins Syndrome is a genetic craniofacial syndrome characterised by bilateral abnormalities of the first and second branchial arches combining Tessier cleft numbers 6-9.
This condition was first described by Berry in 1889 and later by Treacher Collins in 1900, who was a British Ophthalmologist1.
It is also known as mandibulofacial dysostosis, Franceschetti Syndrome2, first and second branchial arch syndrome, or Tessier Cleft 6,7,8.
Aetiology of Treacher Collins
Key Point
The majority of Treacher Collins is the sporadic inheritance of variable penetrance. It can also be caused by autosomal dominant mutations with TCOF1.
The incidence of Treacher Collins syndrome is approximately ~1/50,000 live births.
From a genetic perspective, it is linked to changes in genes on chromosome 5:
- Autosomal dominant inheritance in 40%
- Sporadic inheritance in 60%
- Variable penetrance
- Linked to TCOF13, PLORIC4, POLR1D4
There is no general consensus on the pathophysiology of Treacher Collins Syndrome. There are two main theories:
- Failure of the facial and mandibular facial processes to fuse5.
- Manifestation of a combined Tessier 6, 7, 8 facial clefts6.
Clinical Features of Treacher Collins
Key Point
Treacher Collins syndrome is a condition affecting first and second branchial arches. This results in deficiencies and excess bone and soft tissue of the face.
Treacher Collins syndrome affects structures of the first and second branchial arches. This results in abnormalities in the eyes, face, mouth, facial bones, and ears. These clinical features are illustrated in the diagram below.
Bone
- Skull: reduced cranial base angle (basilar kyphosis).
- Mandible: hypoplasia, shortened ramus, class II malocclusion,
- Maxilla: anterior open bite, absent or ankylosing TMJ.
- Zygoma: hypoplastic, absent or clefted
- Orbit: absent lateral orbital walls cause downward palpebral fissures.
Soft Tissue
- Eyelashes: absent medially, lower eyelid colobomas
- Eyelid: upper lateral half is redundant, which creates a "pseudoptosis."
- Tarsus: absent
- Canthus: absent or medially displaced lateral canthus
- Nose: wide nasal bridge, dorsal hump and poor tip projection.
- Muscles: hypoplastic or absent masticators, hypoplastic temporalis
- Palate: 2° cleft palate (36%) and VPI, or high-arched 7,10.
- Ear: microtia or cryptotia, hypoplastic meatus, absent middle ear ossicle, extra auricle8
Function
- Vision: loss, amblyopia, lateral canthal vertical dystopia
- Hearing: conductive hearing loss
- Speech: speech delay
- Lacrimal system: absent
Management of Treacher Collins
Key Point
In the acute setting, airway and nutrition are the focus. Longer-term reconstruction focuses on ocular, auricular and mandibular treatments.
Acute Treatment
In the acute setting, airway and nutrition are the primary goals. Airway compromise and poor feeding are issues relating to maxillary hypoplasia, mandibular hypoplasia, and narrow pharyngeal diameter.
- Prone positioning or nasopharyngeal airway
- Tube feeding if failure to thrive
Reconstruction
The reconstructive strategy should be individualised to the patient. The goal is to restore function, treat deficits or excesses and improve cosmesis.
Surgical techniques to consider include:
- Bone graft: orbital floor, zygomatic hypoplasia
- Costochondral graft: TMJ reconstruction, mandibular deformities
- Mandible: advancements, distraction, Le Fort I osteotomy
- Oculoplastics: Lateral Canthopexy
- Soft Tissue Flaps: ear reconstruction,
- Rhinoplasty: dorsum hump and loss of nasal tip projection
Each department has specific guidelines for its patient cohort. Generally speaking, the following timeline is recommended:
- Orbital Reconstruction: >7 years after bone development
- Mandible: during early teenage years
- Middle ear: after external ear reconstruction
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