A syndrome of systemic hyalinosis, short-limb dwarfism and possible thymic dysplasia.
D001344:Autopsy; D003095:Collagen Diseases / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin; D007223:Infant; D017880:Limb Deformities, Congenital; D012867:Skin / Q000648:ultrastructure; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities*