Congenital generalized hypertrichosis, Ambras type

Orpha code: 1023OMIM code: 145701

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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