Ambras Syndrome

Common Name(s)

Ambras Syndrome

Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ambras Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ambras Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Ambras syndrome: A rare case report.
 

Author(s): A Ishita, G P Sujatha, G V Pramod, L Ashok

Journal: J Indian Soc Pedod Prev Dent. ;34(2):189-91.

 

Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome ...

Last Updated: 31 Dec 1969

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A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
 

Author(s): Katherine A Fantauzzo, Marija Tadin-Strapps, Yun You, Sarah E Mentzer, Friedrich A M Baumeister, Stefano Cianfarani, Lionel Van Maldergem, Dorothy Warburton, John P Sundberg, Angela M Christiano

Journal: Hum. Mol. Genet.. 2008 Nov;17(22):3539-51.

 

Ambras syndrome (AS) is a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears. Cytogenetic studies have previously implicated an association with rearrangements of chromosome 8. Here we define an 11.5 Mb candidate interval for AS on chromosome ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ambras Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

A hairy development in hypertrichosis: a brief review of Ambras syndrome.
 

Author(s): Rashid M Rashid, Lucile E White

Journal:

 

Ambras syndrome was described less than 20 years ago. The initial report focused on the subtle, but important distinguishing characteristics that separate this from other forms of congenital hypertrichosis. This review, we examine this fascinating syndrome, and the current scientific ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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