Conditions / Genetic
fibrochondrogenesis 2
info · Genetic
A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3.
Signs and symptoms
- Short long bone
- Metaphyseal widening
- Anteverted nares
- Thoracic hypoplasia
- Bell-shaped thorax
- Short nose
- Hypoplastic ischia
- Malar flattening
- Hypoplastic pubic bone
- Midface retrusion