Liebenberg syndrome
| Classification according to ICD-10 | |
|---|---|
| Q73.8 | Other reduction defects of unspecified extremity (s) |
| ICD-10 online (WHO version 2019) | |
The Liebenberg Syndrome is a congenital malformation of the upper extremity with dysplastic elbow, changes in the carpal bones and Brachytelephalangie .
The name refers to the author of the first description from 1973, the South African orthopedic surgeon F. Liebenberg .
distribution
About 10 cases have been described so far; inheritance is autosomal dominant .
root cause
The disease is based on mutations in the PITX1 gene at location 5131.1.
Clinical manifestations
Clinical criteria are:
- Flexion position with apparent dislocation with hypoplastic application of the elbow joint with plumped radial head
- Radial deviation in the wrist due to synostosis of the triquetrum and pisiform
- Short, distended terminal phalanges, sunken fingernails
literature
- G. Tiberio, MC Diglio, M. Graziani, F. Testa, A. Giannotti: Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. In: Journal of medical genetics. Vol. 37, No. 7, July 2000, pp. 548-551, ISSN 1468-6244 . PMID 10970192 . PMC 1734641 (free full text).
Individual evidence
- ↑ a b c 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
- ^ F. Liebenberg: A pedigree with unusual anomalies of the elbows, wrists and hands in five generations. In: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. Vol. 47, No. 17, May 1973, pp. 745-748, ISSN 0038-2469 . PMID 4702300 .
- ^ Liebenberg syndrome. In: Online Mendelian Inheritance in Man . (English)
Web links
- Liebenberg syndrome. In: Orphanet (Rare Disease Database).
