Autosomal recessive cutis laxa, type 1 (Q99457): Difference between revisions
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Cútis laxa autossômica recessiva tipo 1 (ARCL-1) se manifesta no nascimento com fácies anormal, pregas redundantes ao redor da face e pescoço, aparência envelhecida, frouxidão articular e hipotonia muscular. Em comparação com a cútis laxa autossômica dominante, a ARCL-I está mais frequentemente associada a complicações sistêmicas graves, especialmente enfisema, defeitos diafragmáticos, tortuosidade arterial e aneurismas. Muitos pacientes morrem de complicações pulmonares ou cardíacas na primeira infância. O desenvolvimento mental e motor geralmente são normais. É devida a mutações nos genes que codificam fibulina-4 ou fibulina-5. | |||
| description / en | description / en | ||
Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies, redundant folds around the face and neck, an aged appearance, joint laxity and muscular hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated with severe systemic complications, especially emphysema, diaphragmatic defects, arterial tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications in early childhood. Mental and motor development are usually normal. It is due to mutations in the genes encoding fibulin-4 or fibulin-5. | |||
Revision as of 16:07, 16 August 2026
Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies, redundant folds around the face and neck, an aged appearance, joint laxity and muscular hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated with severe systemic complications, especially emphysema, diaphragmatic defects, arterial tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications in early childhood. Mental and motor development are usually normal. It is due to mutations in the genes encoding fibulin-4 or fibulin-5.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1907973642 |
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| English | Autosomal recessive cutis laxa, type 1 |
Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies, redundant folds around the face and neck, an aged appearance, joint laxity and muscular hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated with severe systemic complications, especially emphysema, diaphragmatic defects, arterial tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications in early childhood. Mental and motor development are usually normal. It is due to mutations in the genes encoding fibulin-4 or fibulin-5. |
