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Hyaline fibromatosis syndrome

Synonyms
HYALINOSIS, SYSTEMIC; Hyalinosis, Inherited Systemic

Summary

Excerpted from the GeneReview: Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Joseph TC Shieh
H Eugene Hoyme
Laura T Arbour
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Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMG-2, CMG2, HFS, ISH, JHF, ANTXR2
    Summary: ANTXR cell adhesion molecule 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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