Syndactyly-telecanthus-anogenital and renal malformations syndrome
ORPHA:140952· ICD-10 Q87.8
Definition
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal