Preferred Label : Agammaglobulinaemia - microcephaly - craniosynostosis - severe dermatitis;
ICD-11 definition : This syndrome 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.;
Origin ID : 1531821301;
UMLS CUI : C1864848;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
This syndrome 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.
