Synonym(s)
Berry Syndrome; Franceschetti Elections Small Syndrome; Franceschetti Election Syndrome; Franceschetti syndrome; Franceschetti(-voting small) syndrome; Thomson Complex; Treacher Collins Syndrome
HistoryThis section has been translated automatically.
Berry, 1889; Franceschetti, 1944
DefinitionThis section has been translated automatically.
Autosomal-dominantly inherited, even sporadically occurring malformation with antimongoloid eyelid clefts, mandibular hypoplasia, possibly lid coloboma, absence of the Meibomian glands, maxillary hypoplasia, small maxillary sinuses, high palate, auricular dysplasia, auditory atresia and deafness.
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EtiopathogenesisThis section has been translated automatically.
Autosomal dominant inheritance with complete penetrance and variable expressivity of mutations of the Treacher Collins-Franceschetti syndrome 1 gene (TCOF1 gene; gene locus: 5q32-q33.1).
Clinical featuresThis section has been translated automatically.
Antimongoloid lid fissures; kink of the lower lid margin in the outer half with more or less distinct coloboma. Absence of the meibomian glands; atrichia; flat forehead-nose-angle; nose often shaped like a bird's beak; hypo- or aplasia of the zygomatic arch. Hypoplasia of the maxilla with small maxillary sinuses, resulting in sunken cheeks; reduction malformations of the outer ear of varying severity, possibly with auditory canal stenosis or atresia; resulting in sound conduction disturbance to deafness. Anomalies in the position of teeth with open bite; fistulas and/or skin appendages between ears and corners of the mouth; hypertrichosis from the temples into the cheeks.
LiteratureThis section has been translated automatically.
- Berry GA (1889) Note on a congenital defect (coloboma?) of the lower lid. Royal London Ophthalmological Hospital Report 12: 255-277
- Dixon MJ, Dixon J, Houseal T et al (1993) Narrowing the Position of the Treacher Collins Syndrome Locus to a Small Interval between Three New Microsatellite Markers at 5q32-33.1. at J Hum Genet 52: 907-914
- Franceschetti A, Zwahlen P (1944) Un syndrome nouveau: de la dysostose mandibulofaciale. Bull Switzerland Akad med Wiss I: 60-66
- Franceschetti A, Little D (1949) The mandibulo-facial dysostosis. A new hereditary syndrome. Acta ophthal Kbh 27: 143-224
- Herring SW, Rowlatt UF, Pruzansky S (1979) Anatomical abnormalities in mandibulofacial dysostosis. At J Med Genet 3: 225-259
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Berry syndrome; Ear malformations; Franceschetti elections small syndrome; Franceschetti election syndrome; Franceschetti syndrome; Thomson complex; Treacher collins syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer