Fibrochondrogenesis
| Classification according to ICD-10 | |
|---|---|
| Q77.9 | Osteochondrodysplasia with growth disorders of the long bones and the spine, unspecified |
| Q77.7 | Dysplasia spondyloepiphysaria |
| ICD-10 online (WHO version 2019) | |
The Fibrochondrogenesie is a very rare congenital skeletal dysplasia with the key features of a newborn lethal running rhizomelic chondrodysplasia .
It was first described in 1978 by the French doctor F. Lazzaroni-Fossati .
distribution
The frequency is given as less than 1 in 1,000,000, so far about 15 families have been described.
root cause
Depending on the underlying mutation , two types can be distinguished:
- Type 1 with changes in COL11A1 - gene in chromosome 1 locus p21.1 and autosomal - recessive inheritance
- Type 2 with changes in the COL11A2 gene in chromosome 6 locus p21.32 and autosomal recessive or dominant inheritance
Clinical manifestations
Clinical criteria are:
- Facial abnormalities with protruding eyes, flat middle face, flat, small nose with nostrils pointing forward, narrow mouth with long upper lip
- Rhizomeles Shortening of the extremities , hands and feet hardly or not at all noticeable
In addition, there can be cleft palates , micrognathia and a forked tongue.
diagnosis
The diagnosis is based on the clinical findings, the suspicion can already be made intrauterine by fine ultrasound .
literature
- NG Kundaragi, K. Taori, C. Jathar, A. Disawal: Fibrochondrogenesis, an antenatal and postnatal correlation. In: Journal of clinical imaging science. Vol. 2, 2012, p. 5, doi: 10.4103 / 2156-7514.93037 , PMID 22439129 , PMC 3307213 (free full text).
Individual evidence
- ↑ a b c Fibrochondrogenesis. In: Orphanet (Rare Disease Database).
- ↑ F. Lazzaroni-Fossati, V. Stanescu, R. Stanescu, G. Serra, P. Magliano, P. Maroteaux: La fibrochondrogenese. In: Archives françaises de pédiatrie. Vol. 35, No. 10, December 1978, pp. 1096-1104, PMID 749746 .
- ↑ Fibrochondrogenesis 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ Fibrochondrogenesis 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ GN Bekdache, MA Begam, F. Chedid, L. Al-Gazali, H. Mirghani: Fibrochondrogenesis: prenatal diagnosis and outcome. In: Journal of Obstetrics and Gynaecology: the journal of the Institute of Obstetrics and Gynaecology. Vol. 33, No. 7, October 2013, pp. 663-668, doi: 10.3109 / 01443615.2013.817977 , PMID 24127948 (review).
