Cartilage–hair hypoplasia

Cartilage–hair hypoplasia
Cartilage-hair hypoplasia
Classification and external resources
OMIM 250250

Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia,[1]:578 is a rare form of short-limbed dwarfism due to skeletal dysplasia. It was first reported in 1965 by McKusick et al. Actor Verne Troyer is affected with this form of dwarfism,[2] as was actor Billy Barty, who was renowned for saying "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy."[3]

Genetics

CHH is an autosomal recessive[4] inherited disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.[4]

Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance.

An association between mutations near or within the ncRNA component of RNase MRP, RMRP, has been identified.[5][6][7][8]

See also

References

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ McKusick VA, Eldridge R, Hosteler JA, Ruangwit U, Egeland JA (1965). "Dwarfism In The Amish. II. Cartilage-hair hypoplasia". Bull Johns Hopkins Hosp 116: 285–326. PMID 14284412. 
  3. ^ Chavez, Paul (2000-12-24). "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy". ABC News. http://abcnews.go.com/Entertainment/story?id=111722&page=1. Retrieved 2010-01-26. 
  4. ^ a b Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L (1997). "Uniparental disomy in cartilage-hair hypoplasia". Eur J Hum Genet. 5 (1): 35–42. PMID 9156319. 
  5. ^ Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clin. Genet. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID 11940090. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2002&volume=61&issue=2&spage=146. 
  6. ^ Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A (2001). "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.". Cell 104 (2): 195–203. doi:10.1016/S0092-8674(01)00205-7. PMID 11207361. 
  7. ^ Martin AN, Li Y (2007). "RNase MRP RNA and human genetic diseases.". Cell Res 17 (3): 219–26. doi:10.1038/sj.cr.7310120. PMID 17189938. 
  8. ^ Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD (2008). "Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.". J Allergy Clin Immunol 122 (6): 1178–84. doi:10.1016/j.jaci.2008.07.036. PMID 18804272. 



Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Cartilage-hair hypoplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 250250 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Cartilage hair hypoplasia (CHH) is a rare form of short limbed dwarfism due to skeletal dysplasia.… …   Wikipedia

  • Cartilage hair hypoplasia syndrome — A specific genetic form of short limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum), and the tibia shorter than the fibula. The fingers are… …   Medical dictionary

  • cartilage-hair hypoplasia — an autosomal recessive bone dysplasia caused by mutation in the RMRP gene (locus: 9p21 p12), which encodes an enzyme complex involved in processing mitochondrial RNA. It is characterized by short limbed dwarfism with flaring of the lower rib cage …   Medical dictionary

  • Syndrome, cartilage hair hypoplasia — A specific genetic form of short limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum), and the tibia shorter than the fibula. The fingers are… …   Medical dictionary

  • Hypoplasia — Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all. * * * 1.… …   Medical dictionary

  • CHH — cartilage hair hypoplasia …   Medical dictionary

  • CHH — • cartilage hair hypoplasia …   Dictionary of medical acronyms & abbreviations

  • RMRP — RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene. PBB Summary section title = summary text = Mitochondrial RNA processing endoribonuclease cleaves mitochondrial RNA complementary to the light… …   Wikipedia

  • Non-coding RNA — A non coding RNA (ncRNA) is a functional RNA molecule that is not translated into a protein. Less frequently used synonyms are non protein coding RNA (npcRNA), non messenger RNA (nmRNA) and functional RNA (fRNA). The term small RNA (sRNA) is… …   Wikipedia

  • Chondrodysplasia, metaphyseal (McKusick type) — Also known as cartilage hair hypoplasia syndrome, this is a specific genetic form of short limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum),… …   Medical dictionary

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”