Cartilage-hair hypoplasia
- Cartilage-hair hypoplasia
Infobox_Disease
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Cartilage-hair hypoplasia (CHH) is a rare form of short-limbed dwarfism due to skeletal dysplasia.
Genetics
CHH is an autosomal recessive[cite journal |author=Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L |title=Uniparental disomy in cartilage-hair hypoplasia |journal=Eur J Hum Genet. |volume=5 |issue=1 |pages=35-42 |year=1997 |pmid=9156319 ] inheriteddisorder. 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.]An association with RMRP has been identified.[cite journal |author=Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A |title=RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms |journal=Clin. Genet. |volume=61 |issue=2 |pages=146–51 |year=2002 |month=February |pmid=11940090 |doi= |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2002&volume=61&issue=2&spage=146] ] Etymology
It was first reported in 1965 by McKusick et al. [cite journal | author=McKusick VA, Eldridge R, Hosteler JA, Ruangwit U, Egeland JA | title=Dwarfism In The Amish. II. Cartilage-hair hypoplasia | journal=Bull Johns Hopkins Hosp | year=1965 | pages=285-326 | volume=116 | pmid=14284412]
References
Wikimedia Foundation.
2010.
Look at other dictionaries:
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 … 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
