Treacher Collins Franceschetti Syndrome 1
Victor A. McKusick, OMIM, Johns Hopkins University, May 5, 2005
[for Professionals mainly]
Gene Map Locus: 5q32-q33.1
Mandibulofacial dysostosis … Treacher Collins Syndrome … 'Treacle' Gene … The features are antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia … not be confused with … such as oculoauriculovertebral dysplasia, or Goldenhar syndrome … Coloboma is present in the lower eyelid in Treacher Collins syndrome and in the upper eyelid in Goldenhar syndrome. Rovin et al. (1964) observed 14 affected persons in 5 generations of a Kentucky family. Intrafamilial variation was wide. Intersib variation was small … Balestrazzi et al. (1983) described this disorder in a girl with a de novo balanced translocation t(5;13)(q11;p11) … The possibility that the Treacher Collins locus is on 5q is raised by these findings … Arn et al. (1993) described a mild but entirely typical case of Treacher Collins syndrome in association with a small interstitial deletion of 3p: 46,XY,del(3)(p23p24.12) … reported this case, the TCS gene in familial cases had been assigned to 5q31.3. Arn et al. (1993) suggested that mandibulofacial dysostosis is a heterogeneous entity … Crane and Beaver (1986) diagnosed this disorder by ultrasonography in a midtrimester fetus … Sulik et al. (1987) suggested that the malformations produced in mice by isotretinoin represent a useful model for the pathogenesis of Treacher Collins syndrome … The isolation of new polymorphic markers in the 5q32-q33.1 region permitted the Treacher Collins Syndrome Collaborative Group (1996) to identify overlapping recombinant events … A total of 20 mutations in the TCOF1 gene had been identified to date … 11 were deletions … Edwards et al. (1997) reported 25 previously undescribed mutations … mutations were largely family specific …

Acrofacial Dysostosis 1, Nager Type
Victor A. McKusick, OMIM, Johns Hopkins University, October 10, 2005
[for Professionals mainly]
Mandibulofacial dysostosis, Treacher Collins type, with limb Anomalies Nager acrofacial dysostosis … The limb deformities in the Nager syndrome consist of absence of radius, radioulnar synostosis, and hypoplasia or absence of the thumbs. The mandibulofacial dysostosis is characterized mainly by severe micrognathia and malar hypoplasia. Most reported cases have been sporadic. However, Marden et al. (1964) described an infant with this syndrome whose father and mother were 42 and 41 years of age … See split-hand deformity with mandibulofacial dysostosis …

Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive
Victor A. McKusick, OMIM, Johns Hopkins University, October 27, 2000
[for Professionals mainly]
… 2 sisters in an inbred Hutterite kindred … mandibulofacial dysostosis … raised the question of an autosomal recessive form resembling the Treacher Collins … Lowry et al. (1985) found nine other descriptions of possible autosomal recessive mandibulofacial dysostosis …

Treacher Collins Syndrome … also called Mandibulofacial Dysostosis
The National Craniofacial Association, March 22, 2007
[Support Groups]
What is Treacher Collins Syndrome?
Treacher Collins Syndrome, also called mandibulofacial dysostosis, affects the head and face. Characteristics include:
Down-slanting eyes
Notched lower eyelids
Underdevelopment or absence of cheekbones and the side wall and floor of the eye socket
Lower jaw is often small and slanting
Forward fair in the sideburn area
Underdeveloped, malformed and/or prominent ears.
Most children with Treacher Collins have normal development and intelligence; however, it is important that there be early hearing tests. Most children with Treacher Collins Syndrome benefit from early intervention speech and language programs.

World Craniofacial Foundation
(USA) Treacher-Collins Syndrome ... Working in Romania … Treacher Collins syndrome or Mandibulofacial synostosis affects the size and shape of the ears, cheek bones, and upper and lower jaws … the severity of this syndrome can vary … child with Treacher collins … require the attention of a professional with experience … difficulty maintianing an open airway … may need some assistance with obtaining adequate nutrition … malocclusion of the bite … impaired hearing … cleft of the palate … autosomal dominant inheritance … gene … is located on chromosome 5 …

Treacher Collins

Reflections on Treacher Collins Syndrome
Amie Osborn, 2006

Treacher Collins Syndrome ... Disorders and Deformities ...
Plastic and Craniofacial Surgery for Infants and Children, 2007
Treacher Collins is a genetic condition occuring in approx. 1 of 10,000 births ... team evaluations ... because the jaw and nasal passages are small, these children are at risk of developing breathing problems. It is important that they are evaluated by a specialist if there are any signs of breathing difficulty, feeding problems and/or poor weight gain. Some infants require a tracheostomy ... ear deformities range from prominent ears to mishapen ears ...

Mandibulofacial Dysostosis
I.B.I.S. Birth Defects, September 10, 2003
[Ukrainian]
A fact sheet for specialists
Synonyms ... Minimal diagnostic criteria ... Prevalence ... Pathogenesis ... Gene mapping ... Type of inheritance ... Clinical features ... Differential diagnosis ... Treatment ... Prognosis ... OMIM number ...

Nager Syndrome
I.B.I.S. Birth Defects, October 19, 2002
[Ukrainian]
A fact sheet for specialists
Main diagnostic criteria ... Etiology ... Clinical features ... Associated anomalies ... Differential diagnosis ... Prognosis ... Obstetrical tactics ... Treatment ... OMIM number ...

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Last Updated: 2021/09/01

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