Diastrophic dysplasia (Q46602): Difference between revisions
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Changed label, description and/or aliases in pt-br, en |
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| description / pt-br | description / pt-br | ||
Nanismo diastrófico é um raro transtorno autossômico recessivo marcado por baixa estatura com extremidades curtas (a altura final do adulto é 120cm +/- 10cm) e malformações articulares que levam a múltiplas contraturas articulares (principalmente envolvendo ombros, cotovelos, articulações interfalangianas e quadris). | |||
| description / en | description / en | ||
Diastrophic dwarfism is a rare autosomal recessive disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips) | |||
Revision as of 15:17, 13 August 2026
Diastrophic dwarfism is a rare autosomal recessive disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.03 |
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| English | Diastrophic dysplasia |
Diastrophic dwarfism is a rare autosomal recessive disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips) |
