Ontology Browser

Term:
Mandibulofacial Dysostosis (DOID:9008003)
Annotations: Rat: (17) Mouse: (17) Human: (17) Chinchilla: (17) Bonobo: (16) Dog: (17) Squirrel: (16)
Parent Terms Term With Siblings Child Terms
Crouzon syndrome +     
Autosomal Recessive Craniometaphyseal Dysplasia  
Basel-Vanagaite-Smirin-Yosef syndrome  
Bazopoulou Kyrkanidou Syndrome 
Cote Katsantoni Syndrome 
Craniofacial Dysostosis with Diaphyseal Hyperplasia 
Crouzon syndrome-acanthosis nigricans syndrome  
Freeman-Sheldon Syndrome  
Hallermann-Streiff syndrome +  
Hypomandibular Faciocranial Dysostosis 
Kaplan Plauchu Fitch Syndrome 
Mandibulofacial Dysostosis +   
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 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)
Maxillofacial Dysostosis 
Oculomaxillofacial Dysostosis  
Tricho-Dento-Osseous Syndrome 1 
Whistling Face Syndrome, Recessive Form 

Synonyms
Exact Synonyms: Franceschetti-Zwahlen-Klein Syndrome ;   Mandibulofacial Dysostoses ;   TCOF ;   Treacher Collins-Franceschetti Syndrome
Primary IDs: MESH:D008342 ;   RDO:0000931
Definition Sources: MESH:D008342

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.