Table 4. [Cartilage-Hair Hypoplasia – Anauxetic Dysplasia...]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
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
Immunodeficiency	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
Anemia	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
Gastrointestinal	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

Manifestation/Concern

Treatment

Considerations/Other

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

Immunodeficiency

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

Anemia

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

Gastrointestinal

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

From: Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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