Chondrodysplasy métaphysaire standard Schmid
Disease resulting in a Nanisme micromelic with Coxa will vara without dysmorphism facial.
Very often is not recognized that in the presence of Coxa will vara in an adult
Other names of the disease
NoEtiology
- Change of the Gene COL10A1 situè on the Locus q21-q22.3 of the Chromosome 6
Incidence & Prevalence
Description
Diagnosis
Private clinic
Biological
Genetics
Differential diagnosis
Treatment
Transmission mode
dominant autosomic Transmission
The genetic Council
Family of a patient
Antenatal tracking
Sources
- Site in French of information on the orphan rare diseases and drugs
- Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 156500
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