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Infantile systemic hyalinosis

MONDO:0016331

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Hyaline fibromatosis syndrome (1) Skeletal dysplasia (1) Disease by body system or component (0)
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  • New study aims to unmask hidden causes of childhood joint stiffness

    Knowledge-focused Not yet recruiting

    This study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…

    Sponsor: Assiut University • Aim: Knowledge-focused

    Last updated Jun 26, 2026 17:17 UTC

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