Sommer Rathbun Battles Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Sommer-Rathbun-Battles-Syndrome is a very rare congenital disease with the main characteristics aniridia , renal agenesis and psychomotor retardation .
The name refers to the authors of the first description from 1974 by A. Sommer, MA Rathbun and M. Battles.
Spread and cause
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . The cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Manifestation in the newborn
- Eye malformations such as partial aniridia , congenital glaucoma , telekanthus ,
- Facial abnormality such as prominent forehead , hypertelorism
- unilateral renal agenesis
- slight psychomotor retardation
diagnosis
The diagnosis is based on clinical findings.
Individual evidence
- ↑ a b c aniridia - renal agenesis - psychomotor retardation. In: Orphanet (Rare Disease Database).
- ↑ A. Sommer, MA Rathbun, ML Battles: Letter: A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings. In: The Journal of pediatrics. Volume 85, Number 6, December 1974, pp. 870-872, PMID 4419812 .
