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What is Brachycephalofrontonasal dysplasia?

What is Brachycephalofrontonasal dysplasia?

  • Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.

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

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Brachycephalofrontonasal dysplasia as a "rare disease".
Source - Orphanet

Brachycephalofrontonasal dysplasia: Introduction

Types of Brachycephalofrontonasal dysplasia:

Broader types of Brachycephalofrontonasal dysplasia:

What causes Brachycephalofrontonasal dysplasia?

Causes of Brachycephalofrontonasal dysplasia: see causes of Brachycephalofrontonasal dysplasia

What are the symptoms of Brachycephalofrontonasal dysplasia?

Symptoms of Brachycephalofrontonasal dysplasia: see symptoms of Brachycephalofrontonasal dysplasia

Brachycephalofrontonasal dysplasia: Testing

Misdiagnosis: see misdiagnosis and Brachycephalofrontonasal dysplasia.

How is it treated?

Doctors and Medical Specialists for Brachycephalofrontonasal dysplasia: Pediatrician ; see also doctors and medical specialists for Brachycephalofrontonasal dysplasia.
Treatments for Brachycephalofrontonasal dysplasia: see treatments for Brachycephalofrontonasal dysplasia

Name and Aliases of Brachycephalofrontonasal dysplasia

Main name of condition: Brachycephalofrontonasal dysplasia

Other names or spellings for Brachycephalofrontonasal dysplasia:

Teebi syndrome, craniofrontonasal dysplasia, Teebi type, Hypertelorism, Teebi type, Teebi hypertelorism syndrome, Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet, Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia

Hypertelorism, Teebi type, Teebi hypertelorism syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Brachycephalofrontonasal dysplasia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Brachycephalofrontonasal dysplasia:

 

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