Ambras syndrome

From WikiMD's Wellness Encyclopedia

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

Autosomal dominant pattern, a 50/50 chance.

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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