cartilage-hair hypoplasia
- 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 and a prominent sternum; fine, sparse, light-colored hair; neutropenia with defective cell-mediated immunity; malabsorption; celiac disease; Hirschsprung disease; and increased susceptibility to malignancy.
Medical dictionary.
2011.
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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 — 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
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
