Congenital generalized hypertrichosis, Ambras type
Synonyms: Ambras syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Congenital generalized hypertrichosis, Ambras type?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.