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Infantile systemic hyalinosis

MeSH: D057770ORPHA: 2176

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

medical condition

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Infantile systemic hyalinosis, sourced from HPO and Orphanet clinical annotations.

Polycystic ovariesGingival overgrowthMacrocephalyCoarse facial featuresShort neckAbnormality of the adrenal glandsOsteopeniaOsteoporosisHyperpigmentation of the skinLymphedemaUrticariaThickened skinBrachydactylyHypotoniaJoint stiffnessSubcutaneous noduleFailure to thriveGrowth delayMalabsorptionChronic diarrheaSteatorrheaIncreased susceptibility to fracturesRecurrent bacterial infectionsImmunodeficiencyOsteomalaciaRecurrent fracturesMicromeliaAbnormality of the musculatureSevere short statureShort palmAbnormal dental morphologyAplasia/Hypoplasia of the thymusAbnormality of the gastrointestinal tractFeeding difficultiesCamptodactyly of fingerTelangiectasia of the skinSkin ulcer

Classification & Codes

MeSH Code

D057770

Orphanet Code

ORPHA:2176
Infantile systemic hyalinosis
MeSHD057770
OrphanetORPHA:2176
Treatments0 drug(s)
Symptoms on record37 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO