Mandibulofacial Dysostosis (definition)

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Mandibulofacial Dysostosis

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Definition: 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)

a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Examples Goldenhar Syndrome

Other names Treacher Collins Syndrome; Syndrome, Treacher Collins; Mandibulofacial Dysostoses; Dysostosis, Mandibulofacial; Dysostoses, Mandibulofacial; Collins Syndrome, Treacher

Substance	Categories	Source
Treacher Collins-Franceschetti syndrome	*Mandibulofacial Dysostosis.
Acrofrontofacionasal dysostosis syndrome	*Mandibulofacial Dysostosis.
Acrofacial dysostosis, Palagonia type	Hand Deformities, Congenital Mandibulofacial Dysostosis *Tooth, Supernumerary.
Acrofacial dysostosis, Nager type	*Mandibulofacial Dysostosis.
Acrofacial dysostosis Rodriguez type	Hand Deformities, Congenital Mandibulofacial Dysostosis.
Acrofacial dysostosis Catania form	Mandibulofacial Dysostosis Tooth, Supernumerary.
Genee-Wiedemann syndrome	Abnormalities, Multiple Mandibulofacial Dysostosis Micrognathism Limb Deformities, Congenital.
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Mandibulofacial Dysostosis Intellectual Disability *Microcephaly.
Branchial arch syndrome X-linked	Mandibulofacial Dysostosis Microcephaly Hearing Loss Genetic Diseases, X-Linked Ear/abnormalities Neck/abnormalities.
Fara Chlupackova syndrome	*Mandibulofacial Dysostosis.
Patterson Stevenson syndrome	Congenital Abnormalities Mandibulofacial Dysostosis.
Opitz Reynolds Fitzgerald syndrome	Facial Asymmetry Mandibulofacial Dysostosis.
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	*Mandibulofacial Dysostosis.
Richieri Costa Guion-Almeida syndrome	Foot Deformities, Congenital Hand Deformities, Congenital *Mandibulofacial Dysostosis.
Tcof1 protein, mouse	Nuclear Proteins Phosphoproteins Mandibulofacial Dysostosis.
TCOF1 protein, human	Nuclear Proteins Phosphoproteins Mandibulofacial Dysostosis.	Proc Natl Acad Sci U S A 1997 Apr 1;94(7):3110-5

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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