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, fine hair, sternum and rib defects, malabsorption, Hirschsprung disease, esophageal atresia, vertebral defects, short limbs, short hands, joint hypermobility, metaphyseal dysplasia, hypoplastic anemia, macrocytic anemia, 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: | 2022-11-03 |
| 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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