Congenital Generalized Hypertrichosis, Ambras Type

Description

Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.

Clinical Features

Phenotypes and symptoms related to Congenital Generalized Hypertrichosis, Ambras Type

  • Abnormal facial shape
  • Abnormality of the dentition
  • Overgrowth
  • Hypertrichosis
  • Gingival overgrowth
  • Generalized hypertrichosis
  • Facial hypertrichosis
  • Congenital, generalized hypertrichosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Congenital Generalized Hypertrichosis, Ambras Type Is also known as ambras syndrome, hypertrichosis, congenital generalized.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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