ORPHA:1270
Bowen-Conradi syndrome
Also called Bowen syndrome, Hutterite type
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1270 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Sloping forehead
- Micrognathia
- Prominent nose
- Joint stiffness
- Death in infancy