Low birth weight - dwarfism - dysgammaglobulinaemia (Q99232)
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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. |
