cartilage-hair hypoplasia syndrome
cartilage-hair hypoplasia syndromeMetaphyseal 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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.