- Congenital hypoplastic anaemia
- Normocytic anaemia with Hb ~ 3-4g
- Normal platelets & wbc
Associations
- Thumb anomalies
- Radial hemimelia
- Klippel Feil
- Sprengels
- Hypoplasia of the first ray
- Cleft palate
- Small Jaw
- Renal Anomalies
Presentation
- Clinical presentation is at 3-6 months with listless, irritable child
Treatment
- Steroids
- Transfusion