Zespół Aschera

Kod Orpha: 1253Kod OMIM: 109900

Definicja

A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.

Dane
Klasyfikacja

Zespół wad wrodzonych

Synonimy
Blepharochalasis-double lip syndrome
Zespół zwiotczenia powiek i podwójnej wargi
Kod ORPHA
1253
Kod OMIM
109900
Kod ICD10
Q87.0
Kod ICD11
LD27.Y

Brak opisu rozszerzonego dla tej choroby. Opracowanie w toku.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl