Ambras syndrome
Alternate names
Hypertrichosis universalis congenita Ambras type; HTC 1
Definition
- 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.
Cause
Ambras syndrome has been mapped to the short (q) arm of chromosome 8.
Inheritance
It appears to follow an autosomal dominant pattern of inheritance.
NIH genetic and rare disease info
Ambras syndrome is a rare disease.
Resources
Frequently asked questions
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