agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

This syndrome is a rare condition seen in a small number of siblings. People with this condition have agammaglobulinemia, which means they have very low levels of antibodies, along with marked microcephaly (a smaller than usual head), and significant developmental delay. In addition, craniosynostosis (early closure of the skull bones), severe dermatitis (a skin disorder), cleft palate, narrowing of the choanae (nasal passageway), and blepharophimosis (narrowing of the eye openings) have been noted in affected individuals. The syndrome appears to be inherited in an autosomal recessive manner. It is thought to be a new form of agammaglobulinemia caused by a defect in early B-cell maturation. The detailed description of symptoms and inheritance was observed in three siblings born to nonconsanguineous parents.

The symptoms of this condition include a lack of antibodies (agammaglobulinemia), which can affect the immune system, a smaller head size (microcephaly), and delays in development. Other signs include early closure of skull bones (craniosynostosis), a very severe skin rash (severe dermatitis), a cleft palate, narrowing of the nasal passages (choanal stenosis), and narrow eye openings (blepharophimosis).

This condition is believed to be inherited in an autosomal recessive pattern. The underlying cause is thought to be a defect in early B-cell maturation, which results in agammaglobulinemia. However, the exact genetic details remain unclear based on the available description.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.