Ontology Browser

Term:
Mandibulofacial Dysostosis (RDO:0000931)
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Parent Terms Term With Siblings Child Terms
Craniofacial Dysostosis  +
Bazopoulou Kyrkanidou syndrome
Cote Katsantoni syndrome
Craniofacial Dysostosis with Diaphyseal Hyperplasia
Craniofacial Dysostosis, Type I
Craniometaphyseal dysplasia, autosomal recessive type
Crouzon Syndrome With Acanthosis Nigricans  
Freeman-Sheldon syndrome  
Hallermann's Syndrome  +  
Hypertelorism  +  
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
Acrofacial dysostosis Catania form
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis, Nager type  
Acrofacial dysostosis, Palagonia type
Acrofrontofacionasal dysostosis syndrome
Acromelic Frontonasal Dysostosis
Branchial arch syndrome X-linked
Fara Chlupackova syndrome
Genee-Wiedemann syndrome
Goldenhar Syndrome  +
Mandibulofacial Dysostosis with Mental Deficiency
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive  
Opitz Reynolds Fitzgerald syndrome
Patterson Stevenson syndrome  +  
Richieri Costa Guion-Almeida syndrome
TREACHER COLLINS SYNDROME 2  

Synonyms
exact_synonym: MFD1 ;   Mandibulofacial Dysostoses ;   TCOF ;   TCS ;   TCS1 ;   TREACHER COLLINS SYNDROME 1 ;   Treacher Collins Syndrome ;   Treacher Collins-Franceschetti Syndrome
primary_id: MESH:D008342
alt_id: OMIM:154500

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