Mandibulofacial Dysostosis (Treacher Collins Syndrome) Treatment & Management

Updated: Feb 09, 2016
  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
  • Print
Treatment

Medical Care

Treatment of mandibulofacial dysostosis (Treacher Collins syndrome) is lengthy and requires a multidisciplinary approach focused on treatment of symptoms. [24] In newborns with mandibulofacial dysostosis, immediate attention to airway and swallowing inadequacies is critical. [25]

  • In patients with severe manifestations in which airway inadequacy is the prominent feature after birth, a tracheostomy is performed (and may remain for several years, until the lower jaw has sufficiently grown or until alveolar distraction is performed to enable passage of air through the oral cavity). Otherwise, special positioning of the infant may be sufficient.
  • In patients with severe swallowing difficulty, introduce feeding by gavage or even through a gastrostomy tube to ensure adequate caloric intake and hydration.
  • Fit hearing aids shortly after birth if the patient has substantial conductive hearing loss. Hearing aids are important for the development of the infant's communication skills and for the normal bonding process within the family.
  • Family-to-family support has proven to be of great psychological value.
Next:

Surgical Care

Operative repair of Treacher Collins syndrome is based upon the anatomic deformity and timing of correction is done according to physiologic need and development.

The most pressing issue at birth is airway and obstruction secondary to mandibular retrognathia. Occlusion of the oropharynx can occur in severe phenotypes, with collapse of the suprahyoid musculature and base of tongue. Emergent intubation with or without tracheostomy can be required.

A new management technique has been performed in selected cases. Distraction osteogenesis, an orthopedic method of lengthening bone, has been used to lengthen the neonatal mandible. The infant is intubated at birth, and, within a few days, a cut is made in both sides of the jaw and distraction hardware is placed. The jaw is stretched at 1-2 mm/d, and extubation is usually performed when 10 mm of lengthening is achieved. Tracheostomy is still the standard management for severe airway management, but alternatives may be applicable in certain cases.

For more minor obstructions that can be corrected with positioning, a tongue-lip adhesion is considered. Surgical adhesion is performed between the tongue, lip, and anterior mandible. This pulls the tongue forward, correcting the base of tongue obstruction, and pulls the tongue out of the nasopharynx in the presence of cleft palate. If tracheostomy has been performed for emergent airway concerns, mandibular distraction can be used in infancy to expedite decannulation, as is demonstrated in the images below.

Right-lateral cranial radiograph of an 18-month-ol Right-lateral cranial radiograph of an 18-month-old infant with Treacher Collins syndrome. Note the mandibular osteotomies and internal distraction hardware.
Left-lateral cranial radiograph showing mandibular Left-lateral cranial radiograph showing mandibular osteotomy and distraction osteogeneses for micrognathia.
Lateral radiograph of same patient as in Media fil Lateral radiograph of same patient as in Media files 7 and 8. Completion of distraction; note increased mandibular length.

As mentioned above, the tongue and suprahyoid musculature are advanced anteriorly with the lengthened mandible.

After the airway is controlled, soft tissue deficiencies are addressed, usually within the first year of life. Infant scars tend to be more minor and less noticeable, although this should not be confused with scarless fetal wound healing.

The lateral coloboma of the lower eyelid has traditionally been corrected with a skin-muscle flap from the upper lid or brow. This adds vertical height to the lateral lid, correcting the notch and down-turned lateral palpebral fissure.

Macrostomia, if present, can be repaired at the same time with Z-plasty or straight-line skin repair; however, restoration of continuity in the oral musculature is important, as it restores the function of the oral sphincter and limits scar contracture.

Cleft palate, present in one third of cases, is repaired at approximately age 10-12 months but can be delayed if airway concerns exist. Extra time before cleft palate repair allows for some mandibular growth to occur prior to the surgical narrowing of the airway with repair of the palate.

Microtia is addressed at age 5-7 years, which is when the external ear is approximately 80-90% of adult size and rib cartilage is of sufficient volume to use as graft material. The ear is constructed in 3 stages; the first stage is the most involved. Autologous costochondral grafts are usually harvested from the fifth, sixth, and seventh rib. The cartilage is carved into a framework that simulates the helix and is then placed into a subcutaneous pocket at the absent ear site. This is allowed to heal; the remnant lobule is then rotated into anatomic position on the helix or created if it is not present. Finally, the framework is released from the side of the head; this step requires a skin graft.

Addressing the hard tissues is usually deferred until skeletal maturity. Osteotomies and bone grafts address the long midface, short mandible, and lateral facial clefts. The Le Fort osteotomy II is performed to derotate the middle face with the nasofrontal junction as the fulcrum. The maxilla and nasal bones are disjoined from the cranium to shorten the anterior midface while lengthening the posterior facial height. A compensatory mandibular osteotomy is performed to both vertically and horizontally lengthen the jaw and equilibrate the dental occlusion. Bone grafts fill in the congenital defects at the lateral orbital rim, zygoma, and malar prominence. This stage of reconstruction is the most invasive and physically taxing on the patient. Additional procedures such as rhinoplasty and genioplasty (chin advancement) can be performed after the major osteotomies.

Mitsukawa et al a devised the following a three-stage surgical correction of hard and soft tissue deformities of the upper half of the face in patients with Treacher Collins syndrome [26] :

  • Dermal fat from the lower eyelid is grafted to the malar subcutaneous area
  • A graft is performed with a custom-made, synthetic zygomatic bone
  • A Z-plasty flap is transposed from the upper eyelid to the lower one, and a Mitek anchor system is used for superior repositioning and fixation of the lateral canthal tendon

The study’s authors reported good results for four Treacher Collins syndrome patients with moderate to severe hypoplasia of the lower eyelids and zygomas. [26]

Previous
Next:

Consultations

See the list below:

  • Referral of the family of an infant diagnosed with Treacher Collins syndrome to a clinical geneticist or genetic counselor is important for informing the parents about the autosomal dominant inheritance of the disorder.
  • Because more than half of cases represent new mutations, most families do not have a risk of recurrence in future pregnancies, although their affected child has a 50% chance of passing the trait to his or her own offspring.
Previous