Autosomal recessive faciodigitogenital syndrome
ORPHA:1974· ICD-10 Q87.8
Definition
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal