Schneckenbecken dysplasia
| Schneckenbecken dysplasia | |
|---|---|
| Other names | Chondrodysplasia lethal neonatal with snail like pelvis |
| This condition is inherited following an autosomal recessive manner. | |
| Specialty | Medical genetics |
| Symptoms | Short-limbed dwarfism and prenatal death associated with various other radiological anomalies |
| Complications | Prenatal death |
| Usual onset | Birth |
| Duration | Pregnancy |
| Causes | Genetic mutation |
| Diagnostic method | Genetic testing, ultrasound, autopsy |
| Prevention | none |
| Prognosis | Poor |
| Frequency | rare, about 20 cases have been described |
| Deaths | all cases of Schneckenbecken dysplasia have been dead fetuses. |
Schneckenbecken dysplasia is a rare pre-natally fatal hereditary autosomal recessive condition which affects the bones and pre-natal growth.