agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Findings
No curated finding names agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012508), read 2026-09-29. CC BY 4.0.
Features
53 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased total B cell countHPOHP:0010976
- Very frequent (80% to 99% of cases)
- Occasional (5% to 29% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Choanal stenosisHPOHP:0000452
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Coronal craniosynostosisHPOHP:0004440
- Frequent (30% to 79% of cases)
Show the remaining 41
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- ParakeratosisHPOHP:0001036
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- Seborrheic dermatitisHPOHP:0001051
- Frequent (30% to 79% of cases)