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DeCS
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Descriptor English:
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Mandibulofacial Dysostosis
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Descriptor Spanish:
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Disostosis Mandibulofacial
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Descriptor Portuguese:
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Disostose Mandibulofacial
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Synonyms English:
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Dysostoses, Mandibulofacial
Dysostoses, Mandibulofacial (MFD1)
Dysostosis, Mandibulofacial
Dysostosis, Mandibulofacial (MFD1)
Franceschetti Zwahlen Klein Syndrome
Franceschetti-Zwahlen-Klein Syndrome
Franceschetti-Zwahlen-Klein Syndromes
Mandibulofacial Dysostoses
Mandibulofacial Dysostoses (MFD1)
Mandibulofacial Dysostosis (MFD1)
Syndrome, Franceschetti-Zwahlen-Klein
Syndrome, Treacher Collins
Syndrome, Treacher Collins-Franceschetti
Syndromes, Franceschetti-Zwahlen-Klein
Syndromes, Treacher Collins-Franceschetti
Treacher Collins Franceschetti Syndrome
Treacher Collins Syndrome
Treacher Collins-Franceschetti Syndrome
Treacher Collins-Franceschetti Syndromes
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Tree Number:
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C05.116.099.370.231.576
C05.660.207.231.576
C11.270.147.750
C16.131.621.207.231.576
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Definition English:
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A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid 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) |
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Allowable Qualifiers English:
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Record Number:
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8514
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Unique Identifier:
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D008342
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Occurrence in VHL:
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Similar:
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DeCS
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