Descriptors Found: 1
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Descriptor English:   Mandibulofacial Dysostosis 
Descriptor Spanish:   Disostosis Mandibulofacial 
Descriptor Portuguese:   Disostose Mandibulofacial 
Synonyms English:   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  
Tree Number:   C05.116.099.370.231.576
Definition English:   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) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   8514 
Unique Identifier:   D008342 

Occurrence in VHL: