Edinburgh Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q95.2 | Balanced rearrangement of the autosomes in the abnormal individual |
| ICD-10 online (WHO version 2019) | |
The Edinburgh syndrome or Edinburgh malformation syndrome is a very rare congenital disease with the main features facial dysmorphia , Mental disability , decease in the first months of life.
The name refers to the city of Edinburgh , from which the observed family came, the first and so far only description was in 1974 by Alexander Habel.
distribution
The frequency is given as less than 1 in 1,000,000, the mode of inheritance is not known.
root cause
The disease is based on a trisomy on chromosome 1 locus q43.3-qter and a monosomy on chromosome 2 at q27.1-qter.
Clinical manifestations
Clinical criteria are:
- Facial abnormalities such as carp mouth and hairy forehead
- Hydrocephalus
- retarded motor and mental development
- Failure to thrive
In addition to hyperbilirubinemia and accelerated skeletal maturity come.
Differential diagnosis
The Cornelia de Lange syndrome must be distinguished .
Individual evidence
- ↑ a b Edinburgh Malformation Syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b A. Habel: "Typus Edinburgensis"? In: Pediatrics. Vol. 53, No. 3, March 1974, pp. 425-430, PMID 4360932 .
- ^ IA Laing, EG Lyall, LM Hendry, PM Ellis: "Typus edinburgensis" explained. In: Pediatrics. Vol. 88, No. 1, July 1991, pp. 151-154, PMID 2057251 .
