Femur-Fibula-Ulna Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q74.8 | Other specified congenital malformations of the extremity (s) |
| ICD-10 online (WHO version 2019) | |
The proximal femoral focal deficiency , also briefly FFU syndrome or FFU complex called, is a very rare congenital disease with a usually asymmetrical occurring combination of defects of the femur (femur) and the fibula (fibula) one side with a malformation the ulna (ulnar clubhand ) or Ellbogenaplasie on the opposite side of the body.
Synonyms are: femur-fibula-ulna dysostosis; PFFD
Sometimes the syndrome is also seen as identical to PFFD .
The first description comes from 1967 by the gynecologist D. Kühne, the human geneticist Widukind Lenz , the orthopedist D. Petersen and the pediatrician H. Schönenberg.
distribution
The frequency is given as 1 to 9 in 100,000, up to 1977 only 321 cases were documented, 106 of them in Germany, 109 of 178 cases occurring in boys and 69 in girls.
root cause
The etiology is unknown. No prenatal triggering factors were known. Furthermore, neither a familial accumulation, parental consanguinity or a father age effect , nor a geographical and temporal accumulation could be determined. The FFU complex occurs all over the world.
Clinical manifestations
Clinical criteria are:
- Asymmetry of changes, arms more often than legs, right more often than left
- Variably pronounced, also unusual malformations of the arms such as amelia , humeral hypoplasia and humero-radial synostosis , peromelia (amputation-like stump), more rarely phocomelia
- Defects of the ulna or ulnar ray defects / aplasia 4th and 5th ray, syndactyly 4th and 5th fingers
- usually unilateral hypo- or aplasia of the proximal femur and fibula
- fibular ray defects with oligodactyly in the 4th and 5th ray
- no internal malformations
diagnosis
A prenatal diagnosis from the 20th week of pregnancy is possible using fine ultrasound .
Differential diagnosis
In addition to the proximal femoral defect and a. the mesomelic dysplasia type Verloes-David-Pfeiffer and the femoral-facial syndrome .
therapy
The treatment depends on the type and extent of the malformations.
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e f Femur-fibula-ulna complex. In: Orphanet (Rare Disease Database).
- ↑ D. Kühne, W. Lenz, D. Petersen, H. Schönenberg: Defect of the femur and fibula with amelia, peromelia or ulnar beam defects of the arms: a syndrome. In: Human Genetics. Volume 3, Number 3, 1967, pp. 244-263, PMID 6074386 .
- ↑ K. Hirose, T. Koyanagi, K. Hara, M. Inoue, H. Nakano: Antenatal ultrasound diagnosis of the femur-fibula-ulna syndrome. In: Journal of clinical ultrasound: JCU. Volume 16, Number 3, 1988 Mar-Apr, pp. 199-203, PMID 3150404 .
