Autosomal recessive cutis laxa, type 1 (Q99457): Difference between revisions
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15 August 2026
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Latest 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. |
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CID11:ID_1907973642
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dki-india-ID_1907973642
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Concluído
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15 August 2026
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