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infantile systemic hyalinosis
Pathology:
- hyaline deposits in multiple organs
Genetics:
1) autosomal recessive
2) associated with defects in ANTXR2 gene
Clinical manifestations:
1) similar to juvenile hyaline fibromatosis, but has an earlier onset & a more severe course
2) symptoms appear at birth or within the 1st months of life
3) painful, swollen joint contractures
4) osteopenia
5) livid red hyperpigmentation over bony prominences
6) patients develop multiple subcutaneous skin tumors & gingival hypertrophy
7) recurrent infections
8) intractable diarrhea
9) high infant mortality
Complications:
- severely reduced mobility due to joint contractures in surviving children
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 236490
References
OMIM :accession 236490