Flynn-Aird syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Flynn-Aird syndrome is a syndrome neuroektodermales with central deafness. The nervous system, skin, skeleton, and glandular system are affected.
The disease is named after it was first described in 1965, the American neurologists P. Flynn and Robert B. Aird (1903-2000).
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
Clinical manifestations
Clinical criteria are:
- double-sided inner ear hearing loss occurring in late school age (sensorineural hearing loss)
- Muscle atrophy and joint stiffness
- Eye abnormalities such as cataract , retinitis pigmentosa, myopia
- Ataxia , signs of peripheral neuritis , epilepsy , dementia
- Cutaneous and subcutaneous atrophy
- significant dental caries
diagnosis
In the X-ray image there is a osteoporosis , also can kypho and bone cysts occur.
In urine decreased 17-ketosteroid excretion striking.
Differential diagnosis
The Werner syndrome , Refsum syndrome , Cockayne syndrome and scleroderma are to be distinguished .
literature
- R. Kalb: A patient with Flynn-Aird syndrome. In: Life Insurance Medicine. Volume 36, Number 3, March 1984, pp. 59-62, ISSN 0024-0044 . PMID 6144027 .
Individual evidence
- ^ P. Flynn, RB Aird: A neuroectodermal syndrome of dominant inheritance. In: Journal of the neurological sciences. Volume 2, Number 2, 1965 Mar-Apr, pp. 161-182, ISSN 0022-510X . PMID 5878601 .
- ↑ a b c Flynn-Aird syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
Web links
- Flynn-Aird syndrome. In: Online Mendelian Inheritance in Man . (English)
