MeSH Browser

MeSH Heading: Mandibulofacial Dysostosis
Tree Number(s): C05.116.099.370.231.576; C05.660.207.231.576; C11.270.147.750; C16.131.621.207.231.576
Unique ID: D008342
RDF Unique Identifier: http://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)
Entry Term(s): Franceschetti-Zwahlen-Klein Syndrome; MFD1 Mandibulofacial Dysostosis; Mandibulofacial Dysostosis (MFD1); Treacher Collins Syndrome; Treacher Collins-Franceschetti Syndrome
NLM Classification #: WE 705
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2023/05/31

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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)
Terms: Mandibulofacial Dysostosis Preferred Term
Term UI T024848
Date01/01/1999
LexicalTag NON
ThesaurusID; Franceschetti-Zwahlen-Klein Syndrome
Term UI T842599
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); Treacher Collins Syndrome
Term UI T024849
Date05/26/1976
LexicalTag EPO
ThesaurusID; Treacher Collins-Franceschetti Syndrome
Term UI T812145
Date11/15/2011
LexicalTag NON
ThesaurusID

Mandibulofacial Dysostosis MeSH Descriptor Data 2025