cartilage-hair hypoplasia syndrome

cartilage-hair hypoplasia syndrome

Metaphyseal chondrodysplasia, McKusick type An AR form of short-limbed dwarfism, common in the Amish, of German descent Clinical Bone dysplasia, bradycarpia, redundant skin, sparse hair, defective pigment, malabsorption; death by age 20 Immune defects Neutropenia with defective T-cell immunity, potentially fatal vaccinia, progressive vaccine-related poliomyelitis, defective antibody production and severe combined immunodeficiency, related to defective adenosine deaminase activity Treatment Antibiotics, IFN, BM transplantation. See Adenosine deaminase deficiency.