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Descriptor English: Mandibulofacial Dysostosis
Descriptor Spanish: Disostosis Mandibulofacial
Descriptor disostosis mandibulofacial
Entry term(s) disostosis mandibulofacial (DMF1)
disostosis mandibulofaciales (DMF1)
síndrome de Franceschetti
síndrome de Franceschetti Zwahlen Klein
síndrome de Franceschetti-Zwahlen-Klein
síndrome de Treacher Collins
síndrome de Treacher Collins Franceschetti
síndrome de Treacher Collins-Franceschetti
síndromes de Franceschetti-Zwahlen-Klein
síndromes de Treacher Collins-Franceschetti
Scope note: Trastorno hereditario que se presenta en dos formas: la forma completa (síndrome de Franceschetti) se caracteriza por inclinación de las hendiduras palpebrales, COLOBOMA del párpado inferior, MICROGNATIA e hipoplasia de los ARCOS CIGOMÁTICOS y MICROTIA CONGÉNITA. Se transmite como rasgo autosómico. La forma incompleta (síndrome de Treacher Collins) se caracteriza por las mismas anomalías pero de menor intensidad. Ocurre esporádicamente, pero se sospecha un mecanismo de transmisión autosómico dominante. (Traducción libre del original: Dorland, 27th ed).
Descriptor Portuguese: Disostose Mandibulofacial
Descriptor French: Dysostose mandibulofaciale
Entry term(s): Dysostoses, MFD1 Mandibulofacial
Dysostoses, Mandibulofacial
Dysostoses, Mandibulofacial (MFD1)
Dysostosis, MFD1 Mandibulofacial
Dysostosis, Mandibulofacial
Dysostosis, Mandibulofacial (MFD1)
Franceschetti Zwahlen Klein Syndrome
Franceschetti-Zwahlen-Klein Syndrome
Franceschetti-Zwahlen-Klein Syndromes
MFD1 Mandibulofacial Dysostoses
MFD1 Mandibulofacial Dysostosis
Mandibulofacial Dysostoses
Mandibulofacial Dysostoses (MFD1)
Mandibulofacial Dysostoses, MFD1
Mandibulofacial Dysostosis (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
Tree number(s): C05.116.099.370.231.576
C05.660.207.231.576
C11.270.147.750
C16.131.621.207.231.576
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D008342
Scope note: 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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
DeCS ID: 8514
Unique ID: D008342
NLM Classification: WE 705
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2023/05/31
Mandibulofacial Dysostosis - Preferred
Concept UI M0012984
Scope note 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)
Preferred term Mandibulofacial Dysostosis
Entry term(s) Dysostoses, Mandibulofacial
Dysostosis, Mandibulofacial
Franceschetti Zwahlen Klein Syndrome
Franceschetti-Zwahlen-Klein Syndrome
Franceschetti-Zwahlen-Klein Syndromes
Mandibulofacial Dysostoses
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
Mandibulofacial Dysostosis (MFD1) - Narrower
Concept UI M000764032
Preferred term Mandibulofacial Dysostosis (MFD1)
Entry term(s) Dysostoses, MFD1 Mandibulofacial
Dysostoses, Mandibulofacial (MFD1)
Dysostosis, MFD1 Mandibulofacial
Dysostosis, Mandibulofacial (MFD1)
MFD1 Mandibulofacial Dysostoses
MFD1 Mandibulofacial Dysostosis
Mandibulofacial Dysostoses (MFD1)
Mandibulofacial Dysostoses, MFD1
Mandibulofacial Dysostosis, MFD1



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