Low birth weight - dwarfism - dysgammaglobulinaemia (Q99232): Difference between revisions
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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. |
