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Year : 2017  |  Volume : 4  |  Issue : 1  |  Page : 69-72

Treacher collins syndrome - Report of a classical case

1 Department of Oral Medicine and Radiology, Government Dental College, Aurangabad, Maharashtra, India
2 Department of Oral and Maxillofacial Surgery, Aditya Dental College, Beed, Maharashtra, India

Date of Web Publication2-May-2017

Correspondence Address:
Shweta Gangotri Sumbh
Department of Oral Medicine and Radiology, Government Dental College and Hospital, Medical College Campus, GHATI, Paanchakki Road, Aurangabad, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2348-2125.205412

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Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. This article describes clinical features of TCS in a 12-year-old female who had reported to the Department of Oral Medicine and Radiology. TCS affects structures which are derivatives of the first and second brachial arches which was also observed in this patient presenting with antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible, and an ear abnormality.

Keywords: Autosomal dominant congenital disorder, cleft lip and cleft palate, mandibulofacial dysostosis, Treacher Collins syndrome

How to cite this article:
Sumbh SG, Pagare J, Sumbh B. Treacher collins syndrome - Report of a classical case. J Cleft Lip Palate Craniofac Anomal 2017;4:69-72

How to cite this URL:
Sumbh SG, Pagare J, Sumbh B. Treacher collins syndrome - Report of a classical case. J Cleft Lip Palate Craniofac Anomal [serial online] 2017 [cited 2021 Oct 16];4:69-72. Available from: https://www.jclpca.org/text.asp?2017/4/1/69/205412

  Introduction Top

Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. TCS is found in about 1 in 50,000 births.[1] It affects both genders equally. While 40% of cases have a previous family history, the remaining 60% appear to arise as a result of a de novo mutation. The gene which carries the genetic alteration has been mapped in the distal portion of the chromosome 5 long arm (5q31.3-q33.3).[2] The phenotypical expression of such disease is probably the result of a congenital malformation which bilaterally involves the first and the second branchial arches.[2],[3],[4]

The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.[3],[4],[5]

The syndrome is named after Edward Treacher Collins (1862–1932), an English surgeon and ophthalmologist, who described its essential traits in 1900.[3] In 1949, Adolphe Franceschetti and David Klein described the same condition on their own observations as mandibulofacial dysostosis. The term mandibulofacial dysostosis was used to describe the clinical features.[4]

The presence of an abnormally shaped skull is not distinctive for TCS, but brachycephaly with bitemporal narrowing is sometimes observed.[4],[6]

Dental anomalies are seen in 60% of patients with TCS. These anomalies consist of tooth agenesis (33%), enamel deformities (20%), and malplacement of the maxillary first molars (13%). In some cases, dental anomalies in combination with mandible hypoplasia and cleft lip and palate result in malocclusion. This can lead to problems with food intake and the inability to close the mouth.[2],[3],[4]

  Case Report Top

A 12-year-old female reported to the Department of Oral Medicine and Radiology with the chief complaint of forwardly placed upper anterior teeth. She had a history of operated bilateral cleft lip and palate, which is one of the presenting features of TCS. Family history was insignificant.

On extraoral examination, she presented with antimongoloid slanting of the palpebral fissures with sparse eyelashes on the lower eyelid with an inability to close the right eye. There was hypoplasia of the malar prominence [Figure 1]. Micrognathia was also evident. Due to previous surgery for cleft lip and cleft palate (CLCP), the nose tip was pointing downward, upper lip appeared incompetent, and the patient had “bird like” appearance because of premaxilla prognathism. [Figure 1],[Figure 2],[Figure 3]. In addition, she had malformed ear of the right side.
Figure 1: Extraoral features

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Figure 2: Extraoral features from the left side

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Figure 3: Extraoral features from the right side

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Intraoral examination revealed high-arched palate which is a peculiar feature in operated cases of CLCP. The maxillary incisors were proclined with spacing. Missing lower second molar, overretained lower second deciduous molar of the left side, was noted. Overall, oral hygiene was poor due to malocclusion [Figure 4].
Figure 4: Intraoral image showing V-shaped maxillary arch due to repaired hard palate cleft

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Orthopantomogram (OPG) revealed prominent antegonial notch, short ramus [Figure 5], hypoplasia of the mandible, and defect in the premaxilla due to alveolar cleft bilaterally [Figure 6].
Figure 5: Orthopantomogram findings

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Figure 6: (a-c) Cone beam computed tomography image

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Three-dimensional images show bilateral bony defect of premaxilla. There is proclination of anterior maxilla and crowding of teeth in the same region, and also distally inclined crowns of right and left maxillary central incisors, missing right and left lateral incisors, overretained right deciduous lateral incisor, and impacted right and left maxillary canines. The cone beam computed tomography (CBCT) images give the exact nature, position of the bony defects, and dental deformities present, as compared to OPG.

  Discussion Top

TCS, or Franceschetti syndrome, is an autosomal dominant disorder of craniofacial development.[1],[2] Pathogenesis of TCS has been postulated to be due to several factors such as abnormal patterns of neural crest cell migration, abnormal domains of cell death, improper cellular differentiation during development, or an abnormality of the extracellular matrix.[1],[4]

TCS has an incidence of approximately 1 in 50,000 live births. It affects both genders equally and has a family history in 40% of cases while the remaining 60% appears to arise as a result of a de novo mutation.[3],[5],[6] There was no family history in our case. Derivatives from the first and second pharyngeal arches, grooves, and pouches are affected in TCS.[7],[8]

The typical characteristics of the TCS as stated by Franceschetti and Klein in 1949 are as follows:[9]

  1. Antimongoloid palpebral fissures with either a notch or coloboma of outer third of the lower lid and occasional absence or paucity of lashes of lower eyelid. Antimongoloid palpebral fissures were observed in the reported case on the right side
  2. Hypoplasia of facial bones, especially the malar bones and mandible. These features were present in our case
  3. Malformation of the external ear and occasionally middle and inner ear, with low implantation of the auricle. Ear malformation on the right side was observed in our case
  4. Macrostomia, high-arched palate, malocclusion, and abnormal position of the teeth. Although macrostomia was not observed, high-arched palate and malocclusion were observed in our case more due to operated cleft lip and palate. Presence of cleft lip and palate causes difficulty in eating, speaking, and swallowing properly, so to correct this, surgical intervention is done but as it is performed at the age of 2–3 years, the normal bone formation of the palate is affected and thus there is high-arched palate and malocclusion
  5. Association at times with other anomalies, such as obliteration of the naso-frontal angle, pits or clefts between the mouth, and ear and skeletal deformities. Obliteration of the nasofrontal angle and cleft was observed in our case.

Most of the clinical features in a patient presenting with TCS were found in our case which gives it the merit of a classical case of TCS.

A multidisciplinary approach is required for the management of individuals affected by TCS involving craniofacial surgeons, orthodontists, ophthalmologists, otolaryngologists, and speech therapists.[1],[4]

In this case, orthodontic treatment in the form of distraction has been initiated after scaling and polishing.

  Conclusion Top

Some reports have suggested that multiple major reconstructive surgical procedures in severe form of TCS have shown only marginal improvement and these patients are unlikely to benefit from stem cell therapy.[3] Therefore, future research is directed toward preventive aspects and early prenatal detection of this condition.

  • This article describes a classical case reported as 1 in 50,000 live births - a rare case for the pediatric dentists
  • This case focuses on the extra- and intra-oral clinical features of TCS which helps in quick diagnosis and thus helps in the further treatment plan
  • As this syndrome has the presence of many anomalies, it needs a multidisciplinary approach with the help of which a pediatric dentist can help the patient to get maximum benefit
  • In addition to OPG, CBCT images provide better understanding of facial deformity.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: Etiology, pathogenesis and prevention. Eur J Hum Genet 2009;17:275-83.  Back to cited text no. 1
Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet 1991;49:17-22.  Back to cited text no. 2
Kasat V, Baldawa R. Treacher Collins syndrome - A case report and review of literature. J Clin Exp Dent. 2011;3 Suppl 1:e395-9.  Back to cited text no. 3
Agrawal SM, Parihar SS, Agrawal MG. Mandibulofacial dysostosis (Treacher Collins syndrome)-A rare case report. Natl J Med Dent Res 2013;1:34-7.  Back to cited text no. 4
Dixon MJ. Treacher Collins syndrome. J Med Genet 1995;32:806-8.  Back to cited text no. 5
Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 1997;60:515-24.  Back to cited text no. 6
Hertle RW, Ziylan S, Katowitz JA. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. Br J Ophthalmol 1993;77:642-5.  Back to cited text no. 7
Farrar JE. Mandibulo-facial dysostosis. A familial study. Br J Ophthalmol 1967;51:132-5.  Back to cited text no. 8
Alva P, Shetty SR, Babu S. Treacher Collins syndrome - A report of two cases and review of literature. J Clin Exp Dent 2011;3 Suppl 1:e395-9.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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