Diagnosis

Genetic Aspect

The TCOF1 gene is located on chromosome 5q32

TCOF1 encodes for Treacle, a serine/alanine-rich, nucleolar phosphoprotein.
Treacle is active throughout early embryonic development in structures that become bones and other tissues of the face.
The mutant gene in TCS TCOF1 was discovered using genetic, physical, and transcript mapping approaches.
130 other mutations have been discovered which include: insertion, splicing, and non-sense mutations. Most deletions occur between 1 and 40 nucleotides in length.
40% of TCS cases show a prior family history, 60% of instances don't appear to have a prior family history and are likely to be the product of a de novo mutation.

Prenatal Stage

Diagnosis Means

2D Radiography

More common method of detection.

Accompanied by genetic testing.

2D sonography show less details of the fetal features. The mandible angle and inferior facial angle indicated hypoplastic angle.

During 2nd Trimester – detection by ultrasonography

3D/4D Radiography

3D/4D imaging show fetal features that aid in the differential diagnosis of TCS. Unlike 2D imaging, 3D/4D can show micrognathia,palpebral downslanting, macrostomia, and microtia

Neonatal Stage

Evaluation of anatomical features of neonate show differential diagnosis of TCS patients

Airway	Feeding & Dental	Speech & Hearing	Ocular
Obstruction to airway tract detected by: - Polysomnogram - Nasoendoscopy - Maxillofacial CT scan	Could display palate clefts	- External auditory canal &middle ear are often stenoic => monitored for development of cholesteotomas. - Progression of obstructive sleep apnea	Down-slanting palpebral fissuers are seen

Childhood & Adolescence Stages

As the patient grows older, ongoing monitoring of their case is needed to assess their development and the implications of the syndrome. In addition, several treatment procedure are undertaken. click on the text below ...

Mandible Assessment: Palpation over TMJ and muscles of mastication to detect noises during centric and eccentric movements. Jaw Functional Scale (JFS) is a set of questions that help assess jaw functions in people with TMJ disorders.

Records from 2D cephalometric analysis show:

Steep mandibular angle
Steep occlusal plane angle
Short chin-throat length
Retruded lip
Short ramus.

Diagnostic source 3

Clinical features source 1

Oral Assessments:
Records show:

Anterior open bite
Class II malocclusion
Maxillary hypoplasia
Narrow palate
Increased buccal corridors upon smiling

Treacher-Collins Syndrome