agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0001902
congenital agammaglobulinemia
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016463
syndromic agammaglobulinemia
is_a