Low birth weight - dwarfism - dysgammaglobulinaemia (Q99232): Difference between revisions
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Esta síndrome é caracterizada por baixo peso ao nascer, nanismo, atraso psicomotor, níveis séricos elevados de IgA e infecções bacterianas recorrentes. As anormalidades congênitas incluem articulações hipermóveis, braquidactilia, clinodactilia, baixa contagem de cristas com prega símia e deformidades nos pés. A síndrome foi descrita em apenas uma família: em duas irmãs nascidas de pais normais não consanguíneos. O modo de transmissão é mais provavelmente autossômico recessivo. | |||||||||||||||
| description / en | description / en | ||||||||||||||
This syndrome is characterised by low birth weight, dwarfism, psychomotor retardation, elevated serum IgA levels and recurrent bacterial infections. Congenital abnormalities include hyperextensible joints, brachydactyly, clinodactyly, low ridge counts with a simian crease, and foot deformities. The syndrome has been described in only one family: in two sisters born to normal nonconsanguineous parents. The mode of transmission is most likely autosomal recessive. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/409218252 / rank | |||||||||||||||
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CID11:ID_409218252 | |||||||||||||||
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dki-india-ID_409218252 | |||||||||||||||
| Property / Canary Token: dki-india-ID_409218252 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 15:54, 16 August 2026
This syndrome is characterised by low birth weight, dwarfism, psychomotor retardation, elevated serum IgA levels and recurrent bacterial infections. Congenital abnormalities include hyperextensible joints, brachydactyly, clinodactyly, low ridge counts with a simian crease, and foot deformities. The syndrome has been described in only one family: in two sisters born to normal nonconsanguineous parents. The mode of transmission is most likely autosomal recessive.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_409218252 |
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| English | Low birth weight - dwarfism - dysgammaglobulinaemia |
This syndrome is characterised by low birth weight, dwarfism, psychomotor retardation, elevated serum IgA levels and recurrent bacterial infections. Congenital abnormalities include hyperextensible joints, brachydactyly, clinodactyly, low ridge counts with a simian crease, and foot deformities. The syndrome has been described in only one family: in two sisters born to normal nonconsanguineous parents. The mode of transmission is most likely autosomal recessive. |
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CID11:ID_409218252
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dki-india-ID_409218252
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Concluído
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15 August 2026
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