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Congenital generalized hypertrichosis, Ambras type

Disease definition

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.

ORPHA:1023

  • Synonym(s):
    • Ambras syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q84.2
  • OMIM: 145701
  • UMLS: C1840362
  • MeSH: C536605
  • GARD: 8206
  • MedDRA: -

Additional information

Further information on this disease

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