Table 4.

Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders: Treatment of Manifestations

Musculoskeletal manifestations
  • If cervical spine abnormality &/or instability is identified, special care when general anesthesia is administered
  • In persons w/AD, surgery as needed to fuse malformed cervical vertebrae in infancy & to correct/prevent progression of kyphoscoliosis that can compromise lung function
  • Corrective osteotomies as needed in late childhood or adolescence for excessive varus deformity of lower extremities 1
  • Orthopedic surgery may be complicated by low bone density.
  • Treatment w/recombinant growth hormone has not shown any sustained benefit in persons w/CHH & cannot be recommended. 2
  • Treatment of underlying infections based on type, location, & severity
  • Immediate high-dose IV acyclovir w/onset of varicella infection to prevent complications
  • Consider prophylactic antibiotics for those w/recurrent infections, neutropenia, or severe lymphopenia.
  • Consider IVIG if immunoglobulin or IgG subclass levels are low, or if vaccine responses are inadequate.
  • Treatments for granulomas have included anti-TNF-α therapy & HSCT. 3
  • Consider HSCT in persons w/CHH w/recurrent infections & autoimmune manifestations or bone marrow dysplasia for whom a well-matched donor is available. 4
  • HSCT has resulted in normalization of T lymphocyte numbers & function, resolution of autoimmune manifestations, & catch-up growth, probably due to ↓ infections.
  • Overall survival rates have been reported at 63% for unrelated donor transplants & as high as 80% for matched sibs.
Bronchiectasis Physiotherapy & other acute & long-term treatment for bronchiectasis per pulmonologist
  • Red blood cell transfusions for severe anemia secondary to depressed erythropoiesis
  • HSCT is rarely needed. 5
  • Iron chelation for those requiring recurrent red blood cell transfusions
Although steroids have been effective in treating anemia in some persons w/CHH, data are not sufficient to recommend this therapy in general, esp considering potential side effects of immune suppression & growth deficiency.
Malignancy No specific recommendations for treatment of observed malignancies are available.Non-Hodgkin lymphoma often has poor prognosis w/conventional cytotoxic protocols. 6
  • Standard treatments for congenital megacolon, Hirschsprung disease, intestinal malabsorption
  • Nutrition eval in those w/short bowel syndrome
Endocrine Hormonal induction as needed for delayed pubertal maturation
Development/Cognition Developmental & educational support as needed

AD = anauxetic dysplasia; CHH = cartilage-hair hypoplasia; HSCT = hematopoietic stem cell transplantation; Ig = immunoglobulin; IVIG = intravenous immunoglobulin


From: Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.