Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cartilage-hair hypoplasia

Disorder
OMIM #: #250250  (Click to access OMIM database)
Disorder: Cartilage-hair hypoplasia 
Also known as: CHH
Metaphyseal chondrodysplasia, McKusick type 
Clinical
Phenotype: short stature, sparse hair, other malignancy, hypoplastic anemia, impaired spermatogenesis, metaphyseal abnormalities in skeletal radiographs, increased mortality, cell-mediated immunodeficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: RMRP
Base Change: n.71A>G
Amino Acid Change:
Last updated: 2020-01-16 

References
Harris RE, Baehner RL, Gleiser S, Weaver DD, Hodes ME. (1981) Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet 8:192-197.
PubMed ID: 6972168 
Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. (2005) Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet Dec 1;14(23):3723-40.
PubMed ID: 16254002 
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. (2006) RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A Oct 1;140(19):2121-30.
PubMed ID: 16838329 
McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA. (1965) Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp. 116:285-326.
PubMed ID: 14284412 
Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I. (2003) The Major Mutation in the RMRP Gene Causing CHH among the Amish is the Same as That Found in Most Finnish Cases. Am J Med Genet C Aug 15;121C(1):81-3.
PubMed ID: 12888988 
Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA. (2009) Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. Clin Immunol 131(1):119-28.
PubMed ID: 19150606 
Riley P Jr, Weiner DS, Leighley B, Jonah D, Morton DH, Strauss KA, Bober MB, Dicintio MS. (2015) Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. J Child Orthop Apr;9(2):145-52.
PubMed ID: 25764362 
Scott EM, Chandra S, Li J, Robinette ED, Brown MF, Wenger OK. (2020) Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia. J Clin Immunol Jan 6. doi: 10.1007/s10875-019-00739-9.
PubMed ID: 31903518 

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