Nephrosis-deafness-urinary tract-digital malformations syndrome
ORPHA:2669· ICD-10 Q87.8
Definition
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal