Conditions / Genetic
Ullrich congenital muscular dystrophy 2
info · Genetic
An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.
Signs and symptoms
- Flexion contracture
- Joint hypermobility
- Motor delay
- Increased variability in muscle fiber diameter
- Areflexia
- Neonatal hypotonia
- High palate
- Muscular dystrophy
- Kyphoscoliosis
- Facial palsy