Mandibulofacial Dysostosis [mandibulofaciální dysostóza]

topical
22
Terms

Collinsův syndrom
Franceschetti-Zwahlen-Klein syndrom
Franceschettiho syndrom
Treacher Collinsův syndrom

 

Franceschetti-Zwahlen-Klein Syndrome
Mandibulofacial Dysostosis (MFD1)
MFD1 Mandibulofacial Dysostosis
Treacher Collins Syndrome
Treacher Collins-Franceschetti Syndrome

Persistent link   https://www.medvik.cz/link/D008342
Definition

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)

DUI
D008342 MeSH Browser
CUI
M0012984

C Diseases
C05.116 Bone Diseases 792
C05.116.099.370 Dysostoses 22
C05.116.099.370.231 Craniofacial Dysostosis 28
C05.116.099.370.231.427 Hallermann's Syndrome 5
C05.116.099.370.231.480 Hypertelorism 9
C05.116.099.370.231.576 Mandibulofacial Dysostosis 22
C05.116.099.370.231.576.410 Goldenhar Syndrome 7
C05.660.207.231 Craniofacial Dysostosis 28
C05.660.207.231.427 Hallermann's Syndrome 5
C05.660.207.231.480 Hypertelorism 9
C05.660.207.231.576 Mandibulofacial Dysostosis 22
C05.660.207.231.576.410 Goldenhar Syndrome 7
C11 Eye Diseases 1 485
C11.270.147 Coloboma 14
C11.270.147.500 CHARGE Syndrome 1
C11.270.147.750 Mandibulofacial Dysostosis 22
C16.131.621.207 Craniofacial Abnormalities 77
C16.131.621.207.231 Craniofacial Dysostosis 28
C16.131.621.207.231.427 Hallermann's Syndrome 5
C16.131.621.207.231.480 Hypertelorism 9
C16.131.621.207.231.576 Mandibulofacial Dysostosis 22
C16.131.621.207.231.576.410 Goldenhar Syndrome 7