Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
Synonym |
Hyalinosis, Systemic Juvenile |
Juvenile Hyaline Fibromatosis |
Juvenile Hyalinosis |
Hyaline Fibromatosis Juvenile |
Hyaline Fibromatosis Syndrome |
Fibromatosis, Juvenile Hyaline |
Puretic Syndrome |
Fibromatosis Juvenile Hyaline |
Systemic Hyalinosis |
Hyalinosis, Systemic |
Fibromatosis Hyalinica Multiplex Juvenilis |
Infantile Systemic Hyalinosis |
Murray Syndrome |