agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
MONDO:0012508
A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
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No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
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Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is caused by profound B-cell depletion with normal T-cell numbers. The condition was first identified in a 2006 report.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.