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Dictionary » Mandibulofacial dysostosis
 

Mandibulofacial dysostosis

Introduction: Mandibulofacial dysostosis

Description of Mandibulofacial dysostosis

Mandibulofacial dysostosis (medical condition): A rare genetic disorder characterized by malar hypoplasia, down-slanting eye...more »

See also:

Franceschetti-Klein syndrome:
  »Introduction: Franceschetti-Klein syndrome
  »Symptoms of Franceschetti-Klein syndrome

Mandibulofacial dysostosis: A syndrome with variable expressivity, largely involving structures derived from the first pharyngeal arch, groove or pouch. It is characterized mainly by fishlike facies with receding chin, downward sloping palpebral fissures, colobomas of the eyelids, macrostomia, dysplastic ears, and other anomalies. Ear malformation are usually associated with hearing loss. Orofacial defects are symmetrical and differ from those in oculo-auriculovertebral dysplasia which generally affect one side of the body. Mental retardation occurs in some cases. The name Treacher Collins is sometimes erroneously hyphenated.
Source: Diseases Database

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).
Source: MeSH 2007

Mandibulofacial dysostosis: Related Topics

These medical condition or symptom topics may be relevant to medical information for Mandibulofacial dysostosis:

Mandibulofacial dysostosis: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Mandibulofacial dysostosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Mandibulofacial dysostosis, or a subtype of Mandibulofacial dysostosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Mandibulofacial dysostosis as a "rare disease".

Source - Orphanet

Mandibulofacial dysostosis as a Disease

Mandibulofacial dysostosis: Another name for Franceschetti-Klein syndrome (or close medical condition association).
  »Introduction: Franceschetti-Klein syndrome
  »Symptoms of Franceschetti-Klein syndrome

Mandibulofacial dysostosis: Related Diseases

Mandibulofacial dysostosis: Mandibulofacial dysostosis is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Mandibulofacial dysostosis (Franceschetti-Klein syndrome)

Some of the symptoms of Mandibulofacial dysostosis incude:

Terms associated with Mandibulofacial dysostosis:

Terms Similar to Mandibulofacial dysostosis:

Source: Diseases Database

Source - NIH

Source - MeSH 2007

More specific terms for Mandibulofacial dysostosis:

Source - MeSH 2007

Broader terms for Mandibulofacial dysostosis

Source - MeSH 2007

Hierarchical classifications of Mandibulofacial dysostosis

The following list attempts to classify Mandibulofacial dysostosis into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

External links related to: Mandibulofacial dysostosis

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • NHBP
  • NHC
  • NHD
  • NHE
  • NHE1
  • NHE2
  • NHGRI
  • NHL
  • NHL (generic term)
  • NHLBI
  • NHPP
  • NHS
  • Ni
  • Ni element
  • NIA

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