Cartilage Hair Hypoplasia (CHH)
Synonyms: Metaphyseal Chondrodysplasia, McKusick type

Cartilage Hair Hypoplasia 
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours Excellent overview of these conditions including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc.

Cartilage Hair Hypoplasia
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Medical/Scientific description of CHH with emphasis on the genetics of the condition.

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
Source/Author: Christian T Thiel, GeneReviews
Web-based (medical)
Excellent overview of CHH and other conditions caused by mutations in the same gene. 

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. 
Source/Author: Taskinen M, Ranki A, Pukkala E, Jeskanen L, Kaitila I, Makitie O 
Medical journal article on the incidence of cancers in the Finnish CHH population. 
Full text article available by contacting [email protected]

Growth Chart: Height. Cartilage Hair Hypoplaisa female
Source/Author: Makitie O, Perheentupa J, Kaitila I 
Growth chart for girls with CHH. Measurements must be converted to centimeters.

Growth chart: Height. Cartilage Hair Hypoplasia male
Source/Author: Makitie O, Perheentupa J, Kaitila I 
Growth chart for boys with CHH. Measurements must be converted to centimeters

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients
Source/Author: van der Burgt I, Haraldsson A, Oosterwijk JC, van Essen AJ, Weemaes C, Hamel B. Am J Med Genet. 1991 Dec 1;41(3):371-80. 
Review of the natural history of CHH and discussion of the clinical variability.

Cartilage-hair hypoplasia
Source/Author: Geneva Foundation for Medical Education and Research 
X-rays, histology and photographs of CHH. Link to article on the gene mutation that causes CHH.

Metaphyseal chondrodysplasia, recessive type
Source/Author: M. le Merrer, M.D.; Orphanet 
Brief overview of the condition, scientific citations, clinical features and other web sites.

Metaphyseal chondrodysplasia.
Source/Author: Spranger JW. Postgrad Med J. 1977 Aug;53(622):480-7. 
Review of the clinical and radiographic features of the metaphyseal chondrodysplasias. Please note that this article was published in 1977.

McKusick Type Metaphyseal Chondrodysplasia
Source/Author: National Organization of Rare Diseases 
Web-based (medical)
Brief and full description of the clinical features/characteristics, medical complications and genetics of this condition.

Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis.
Source/Author: Toiviainen-Salo S, Kajosaari M, Piilonen A, Makitie 
Full text (if qualify as patient in need)
Risk of chronic lung disease in patients with CHH (in the Finnish population)

The natural history of severe anemia in cartilage-hair hypoplasia.
Source/Author: Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. 
Medical journal review article on the complication of anemia in patients with CHH.

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia - Anauxetic Dysplasia Spectrum.
Source/Author: Christian T.  Thiel, Geert  Mortier, Ilkka  Kaitila, André  Reis, and Anita  Rauch
Full text article
Medical journal article describing that the type of mutation in the RMRP gene indicates the severity of the condition.  

Cartilage hair hypoplasia: immunological aspects and their clinical implications.
Source/Author: Polmar SH, Pierce GF. Clin Immunol Immunopathol. 1986 Jul;40(1):87-93. 
Discussion of the immunology aspects of this condition.

Cartilage-Hair Hypoplasia
Source/Author: Alan P Knutsen; E-medicine 
Web-based (medical)
Description of condition including clinical information, diagnosis, treatment and patient information

McKusick's type of metaphyseal chondrodysplasia
Web-based (medical)
Brief description of the clinical features/characteristics, medical complications and genetics of this condition.