Illum syndrome
| Classification according to ICD-10 | |
|---|---|
| Q74.3 | Arthrogryposis multiplex congenita |
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Illum syndrome is a very rare congenital disease with the main features of a joint stiffness ( arthrogryposis multiplex congenita ) and a "pfeiffenden mouth" ( Freeman-Sheldon syndrome ).
Synonyms are: Arthrogryposis multiplex congenita - Whistling face syndrome, Arthrogryposis multiplex congenita - CNS calcification
The name refers to the first authors of the first description from 1988 by the Danish doctors N. Illum, E. Reske-Nielsen and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, the inheritance is probably autosomal - recessive .
root cause
The cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Manifestation in the newborn age
- Image of arthrogryposis with a rigid expression, like whistling
- pronounced developmental delay
- neurological disorders such as increased salivation, unstable body temperature, apnea , seizures , bradycardia
A Pierre Robin sequence exists in around 50% . The life expectancy is often only a few months.
literature
- M. Di Rocco, MI Erriu, E. Lignana: Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. In: American journal of medical genetics. Volume 44, number 3, October 1992, p. 391, doi: 10.1002 / ajmg.1320440330 , PMID 1488995 .
- C. Schrander-Stumpel, JP Fryns, FA Beemer, FA Rive: Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. In: American journal of medical genetics. Volume 38, Number 4, March 1991, pp. 557-561, doi: 10.1002 / ajmg.1320380412 , PMID 206389
Individual evidence
- ↑ a b c Arthrogryposis multiplex congenita - Whistling-face syndrome. In: Orphanet (Rare Disease Database).
- ↑ ILLUM SYNDROMS. In: Online Mendelian Inheritance in Man . (English)
- ^ N. Illum, E. Reske-Nielsen, F. Skovby, SA Askjaer, A. Bernsen: Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system. In: Neuropediatrics. Volume 19, Number 4, November 1988, pp. 186-192, doi: 10.1055 / s-2008-1052443 , PMID 3205375 .
