Acrogeria

Orpha code: 2500OMIM code: 201200

Definicja

A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Acrogeria, Gottron type
Akrogeria, typu Gottrona
Akrometageria
Zespół Gottrona
Acrometageria
Gottron syndrome
Kod ORPHA
2500
Kod OMIM
201200
Kod ICD10
L90.8
Kod ICD11
LD2B

No additional description.

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