ORPHA:83617
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:83617 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Decreased total B cell count
- Cleft palate
- Microcephaly
- Micrognathia
- Low-set ears
- Underdeveloped nasal alae