Tall stature-intellectual disability-renal anomalies syndrome
ORPHA:500095· ICD-10 Q87.3
Definition
A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal