Term Name: hyaline fibromatosis syndrome
Synonyms: HFS, inherited systemic hyalinosis, puretic syndrome, systemic hyalinosis
Definition: A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
Ontology: Human Disease [DOID:0111669]   ( DOID:0111669 )

Relationships
is a type of: autosomal recessive disease connective tissue disease