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Mandibulofacial Dysostosis (Treacher Collins Syndrome)

A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Also Known As:
Treacher Collins Syndrome; Syndrome, Treacher Collins; Franceschetti-Zwahlen-Klein Syndrome; Mandibulofacial Dysostosis (MFD1); Treacher Collins-Franceschetti Syndrome; Dysostoses, MFD1 Mandibulofacial; Dysostoses, Mandibulofacial; Dysostoses, Mandibulofacial (MFD1); Dysostosis, MFD1 Mandibulofacial; Dysostosis, Mandibulofacial; Dysostosis, Mandibulofacial (MFD1); Franceschetti Zwahlen Klein Syndrome; Franceschetti-Zwahlen-Klein Syndromes; MFD1 Mandibulofacial Dysostoses; Mandibulofacial Dysostoses; Mandibulofacial Dysostoses (MFD1); Mandibulofacial Dysostoses, MFD1; Mandibulofacial Dysostosis, MFD1; Syndrome, Franceschetti-Zwahlen-Klein; Syndrome, Treacher Collins-Franceschetti; Syndromes, Franceschetti-Zwahlen-Klein; Syndromes, Treacher Collins-Franceschetti; Treacher Collins Franceschetti Syndrome; Treacher Collins-Franceschetti Syndromes; MFD1 Mandibulofacial Dysostosis
Networked: 255 relevant articles (1 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Pierre Robin Syndrome (Syndrome, Pierre Robin)
2. Goldenhar Syndrome (Hemifacial Microsomia)
3. Craniosynostoses (Craniosynostosis)
4. Amelogenesis Imperfecta
5. Stomatognathic Diseases (Dental Disease)

Experts

1. Dixon, Jill: 7 articles (01/2016 - 04/2004)
2. Lohmann, Dietmar R: 7 articles (05/2015 - 05/2009)
3. Wieczorek, Dagmar: 7 articles (05/2015 - 05/2009)
4. Hehr, Ute: 6 articles (05/2015 - 05/2009)
5. Trainor, Paul A: 5 articles (01/2016 - 02/2008)
6. Dixon, Michael J: 5 articles (01/2011 - 07/2004)
7. Newman, William G: 4 articles (01/2021 - 12/2014)
8. O'Keefe, Raymond T: 4 articles (01/2021 - 12/2014)
9. McCarthy, Joseph G: 4 articles (01/2018 - 03/2002)
10. Guion-Almeida, Maria Leine: 4 articles (04/2015 - 02/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mandibulofacial Dysostosis:
1. Proteins (Proteins, Gene)FDA Link
2. type 1 Stickler syndromeIBA
3. Van der Woude syndromeIBA
4. Nuclear Proteins (Protein, Nuclear)IBA
5. Genee-Wiedemann syndromeIBA
6. Serine (L-Serine)FDA Link
7. RNA (Ribonucleic Acid)IBA
01/01/2016 - "Transcription of the ribosomal RNAs (rRNAs) by RNA polymerases (Pol) I and III, is considered a rate limiting step of ribosome biogenesis and mutations in the genes coding for RNA Pol I and III subunits, POLR1C and POLR1D cause Treacher Collins syndrome, a rare congenital craniofacial disorder. "
01/01/1995 - "This minireview highlights selected examples of scientific progress derived from the following experimental strategies: (i) molecular approaches to the organization of the mouse and human chromosomes, with the mapping of specific gene sequences linked to human diseases (e.g., amelogenesis imperfecta, Boston type craniosynostosis, Rieger's syndrome, Treacher Collins syndrome); (ii) reverse genetic approaches for studies of gene function; (iii) homologous recombinations and the advances from "knock-out" transgenic mouse models for human craniofacial-oral-dental diseases; (iv) mutational analyses of congenital craniofacial-oral-dental dysmorphogenesis; (v) structural biology studies using computer-assisted molecular modeling for protein-protein, protein-nucleic acid and protein-inorganic interactions; (vi) computer modeling of genetic paradigms; and (vii) a cluster of newer methodologies including computer-assisted morphometry, new microinjection techniques, new cell membrane and intracellular dyes, and a number of new RNA and DNA viral constructs for the delivery of genes to enhance the resolution of cell fate maps, cell lineage studies and gene therapy approaches to human diseases."
8. Ribosomal DNA (rDNA)IBA
9. Alanine (L-Alanine)FDA Link
10. Ectrodactyly-cleft lip-palate syndromeIBA

Therapies and Procedures

1. Anesthesia
2. Ambulatory Surgical Procedures (Outpatient Surgery)
3. Therapeutics
4. Airway Management
5. Tracheostomy