Autosomal recessive cutis laxa type 1

Orpha code: 90349OMIM code: 219100

Definition

A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

Disease data
Classification

Disease

Synonyms
ARCL1
Autosomalna recesywna skóra wiotka with severe systemic involvement
ARCL1
Autosomalna recesywna skóra wiotka z rozedmą płuc
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
ORPHA code
90349
OMIM code
219100
ICD10 code
Q82.8
ICD11 code
-

No additional description.

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