Mandibulofacial dysostosis

MONDO:0015483

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)

Also known as: bilateral and symmetric oto-mandibular dysplasia

0 clinical trials for this condition and its sub-types, 0 tagged with Mandibulofacial dysostosis itself.

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Sub-types of Mandibulofacial dysostosis

Treacher-Collins syndrome 0 trials
4 sub-types
- Treacher Collins syndrome 1 0 trials
- Treacher Collins syndrome 2 0 trials
- Treacher Collins syndrome 3 0 trials
- Treacher Collins syndrome 4 0 trials
X-linked mandibulofacial dysostosis 0 trials
Acrodysostosis 0 trials
2 sub-types
- Acrodysostosis 1 with or without hormone resistance 0 trials
- Acrodysostosis 2 with or without hormone resistance 0 trials
Mandibulofacial dysostosis with alopecia 0 trials
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 0 trials
Otofaciocervical syndrome 0 trials
2 sub-types
- Otofaciocervical syndrome 1 0 trials
- Otofaciocervical syndrome 2 0 trials

Including sub-types (0) Tagged with Mandibulofacial dysostosis (0)

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