Congenital generalized hypertrichosis, Ambras type

Orpha code: 1023OMIM code: 145701

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.

Disease data
Classification

Clinical subtype

Synonyms
Ambras syndrome
Zespół Ambrasa
ORPHA code
1023
OMIM code
145701
ICD10 code
Q84.2
ICD11 code
LD27.0Y

No additional description.

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