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

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+dki-india-ID_409218252
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+August 2026Timestamp +2026-08-15T00:00:00Z
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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
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.