Conditions / Genetic
anauxetic dysplasia 1
info · Genetic
An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
Signs and symptoms
- Aortic valve stenosis
- Flared metaphysis
- Rhizomelia
- Short foot
- Barrel-shaped chest
- Lumbar hyperlordosis
- Macroglossia
- Short palm
- Microdontia
- Thoracic kyphosis
Also known as: spondylometaepiphyseal dysplasia, Menger type