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Topic: Hypochondroplasia

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	Hypochondroplasia (Site not responding. Last check: 2007-11-05)
		Hypochondroplasia is another form of short-limb dwarfism with rhizomelic (proximal ends of the limb) shortening.
		Hypochondroplasia is inherited in an autosomal dominant manner (see the genetics section for further details).
		This means that a person with hypochondroplasia who partner is average-sized, has a 50% or 1 in 2 chance of having children with hypochondroplasia.
	www.hopkinsmedicine.org /greenbergcenter/hypochon.htm (326 words)

	Hypochondroplasia Information on Healthline
		Hypochondroplasia is an autosomal dominant mutation that results in short stature with disproportionately short arms and legs, but normal head size.
		Hypochondroplasia is a common form of short stature and belongs to a class of dwarfism referred to as a chrondrodystrophy or skeletal dysplasia.
		Approximately 70% of hypochondroplasia is caused by mutations in the FGFR3 gene.
	www.healthline.com /galecontent/hypochondroplasia (1026 words)

	Hypochondroplasia
		Hypochondroplasia is primarily characterized by small stature, disproportionately short arms and legs (limbs), mild to moderate shortness of the fingers and toes (brachydactyly), and broad, short hands and feet (i.e., short-limbed dwarfism).
		Hypochondroplasia is thought to have an incidence of approximately one-twelfth that of achondroplasia.
		Although hypochondroplasia has certain similar findings, experts indicate that it may be distinguished from achondroplasia by less severe skeletal malformations of the hands and spine; absence of pelvic involvement; lack of or relatively mild associated abnormalities of the skull and facial (craniofacial) region; and/or other differences as determined by clinical and x-ray (radiographic) evaluation.
	hw.healthdialog.com /kbase/nord/nord591.htm (1783 words)

	Hypochondroplasia - Wikipedia, the free encyclopedia
		Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body.
		Standard treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy.
		Genetic counseling is advised for patients and their families.
	en.wikipedia.org /wiki/Hypochondroplasia (247 words)

	Nemours.org - Nemours.org - Skeletal Dysplasia - Hypochondroplasia (Site not responding. Last check: 2007-11-05)
		Hypochondroplasia is a type of dwarfism that is less severe than achondroplasia.
		Whereas the mutation in achondroplasia is always a glycine to arginine substitution, there is greater variability of the type of mutation and its expression in hypochondroplasia.
		The condition of muscles and joints are better in hypochondroplasia and surgery is less risky.
	www.nemours.org /internet?url=no/dysplasia/hypochondroplasia.html (628 words)

	Hypochondroplasia
		Hypochondroplasia is inherited in an autosomal dominant manner.
		Because of evidence that the height range in hypochondroplasia may overlap that of the normal population, individuals with hypochondroplasia may not be recognized as having a skeletal dysplasia unless an astute physician recognizes their disproportionate short stature.
		Germline mosaicism has not been reported for hypochondroplasia and therefore the risk that the sibs of an affected individual born to parents of normal stature would have hypochondroplasia appears to be extremely low (<0.01%).
	www.geneclinics.org /profiles/hypochondroplasia/details.html (5312 words)

	Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. (Site not responding. Last check: 2007-11-05)
		Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.Cloverleaf skull is a trilobar skull deformity which is etiologically and genetically heterogeneous and occurs in association with a number of disorders which result from mutations in the fibroblast growth factor receptor genes.
		We report on a case of cloverleaf skull deformity in a patient with hypochondroplasia, a disorder which has not been previously associated with this anomaly.
		Hypochondroplasia is a bone dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
	www.ihop-net.org /UniPub/iHOP/gp/1707893.html (171 words)

	Mendelian Inheritance in Man Document Reader
		A number sign (#) is used with this entry because of evidence that hypochondroplasia is due to mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; 134934), located on 4p, which is mutated consistently in achondroplasia (100800).
		Evidence that hypochondroplasia and achondroplasia are allelic disorders came from observation of the presumed genetic compound in an offspring of an achondroplastic father and a hypochondroplastic mother (McKusick et al., 1973).
		Furthermore, linkage studies in a 3-generation family with hypochondroplasia showed discordant segregation with markers in the 4p16.3 region where the achondroplasia locus is situated, suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3.
	www.angis.org.au /bin/Databases/BIRX/birx_doc?phtomim+146000 (1336 words)

	GENETIC DISORDERS - Hypochondroplasia
		Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
		The causes of the other 30 percent of hypochondroplasia cases are unknown, but researchers suspect that mutations in other genes may be involved.
		Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
	www.medic8.com /genetics/hypochondroplasia.htm (494 words)

	Hypochondroplasia? - Health and Medical Information produced by doctors - MedicineNet.com
		Hypochondroplasia is a type of short-limb dwarfism with shortening especially of the ends of the limbs (termed rhizomelic dwarfism).
		Hypochondroplasia is inherited in an autosomal dominant condition.
		This means that each child born to a person with hypochondroplasia has a 50% or 1 in 2 chance of having hypochondroplasia.
	www.medicinenet.com /script/main/art.asp?articlekey=9067 (235 words)

	Dissertations from Karolinska Institutet - Published by Karolinska Institutet Karolinska Institutet - ki.se
		The phenotype in hypochondroplasia is mainly characterised by rhizomelic (proximal) shortening of the limbs, whereas dyschondrosteosis confers mesomelic short stature (shortening of the middle segment).
		In both hypochondroplasia and dyschondrosteosis, the phenotype varies from moderate to severe short stature and body disproportion and it is usually mild in early childhood, which causes diagnostic difficulties.
		The hypochondroplasia individuals without the Asn540Lys mutation were less disproportionate, suggesting that these cases might have a phenotype resembling idiopathic short stature or mild dyschondrosteosis.
	diss.kib.ki.se /2001/91-7349-014-8 (670 words)

	Hypochondroplasia - Genetics Home Reference
		Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns.
		Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active.
		In the absence of a mutation in the FGFR3 gene, the cause of hypochondroplasia is unknown.
	ghr.nlm.nih.gov /condition=hypochondroplasia (729 words)

	Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations (Site not responding. Last check: 2007-11-05)
		Hypochondroplasia is an autosomal dominant form of disproportionate short stature disorder that has clinical and radiographic findings similar to but milder than achondroplasia.
		Tested linkage to 4p markers in 6 hypochondroplasia families and a maximum LOD score of 1.7 at{theta}= 0 was found for IUDA.
		The results of this study provide confirmatory evidence that achondroplasia and hypochondroplasia map to the same chromosomal location and suggests that they are indeed allelic conditions.
	www.osti.gov /energycitations/product.biblio.jsp?osti_id=134027 (307 words)

	Title page for ETD etd-0708102-111113
		Achondroplasia and hypochondroplasia are two forms of skeletal dysplasias caused predominantly by single base mutations in the fibroblast growth factor receptor 3 gene (FGFR-3).
		The purpose of this study was to develop an assay that could detect the frequencies of achondroplasia and hypochondroplasia causing mutations in human sperm.
		With the development of this technique, future studies could focus on determining the frequencies of the mutations in the sperm of fathers of affected children and the frequencies of the mutations in the sperm of the normal population.
	etd.lsu.edu /docs/available/etd-0708102-111113 (290 words)

	Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the ... (Site not responding. Last check: 2007-11-05)
		Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene -- MORTIER et al.
		Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
		Hypochondroplasia is a mild, autosomal dominant skeletal dysplasia.
	jmg.bmjjournals.com /cgi/content/full/37/3/220 (1377 words)

	Hypochondroplasia Treatment and Symptoms
		Hypochondroplasia is similar to achondroplasia, but the features tend to be milder.
		People with hypochondroplasia have disproportionately short arms and legs and broad, short hands and feet.
		Hypochondroplasia is a developmental disorder caused by an autosomal domina...
	www.goldbamboo.com /topic-t6892.html (311 words)

	Achondroplasia - Health and Medical Information produced by doctors - MedicineNet.com
		Another skeletal disorder called hypochondroplasia has also turned out to be due to yet another mutation (change) in the same gene.
		Achondroplasia, thanatophoric dwarfism, and hypochondroplasia are thus due to mutational changes at the same gene locus.
		The locus of the gene for achondroplasia (which is also the locus of the genes for thanatophoric dwarfism and hypochondroplasia) has been mapped.
	www.medicinenet.com /achondroplasia/page3.htm (638 words)

	Unbound MEDLINE \| Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between ...
		Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia.
		The study included 25 patients with hypochondroplasia (HCP), 39 with dyschondrosteosis (LWD), and 71 with Turner syndrome (TS).
		MCPP analysis is a helpful tool for differentiating between syndromes with similar clinical and radiological abnormalities.
	www.unboundmedicine.com /medline/ebm/record/16796318/abstract/Metacarpophalangeal_pattern_profile_analysis:_useful_diagnostic_tool_for_differentiating_between_dyschondrosteosis_Turner_syndrome_and_hypochondroplasia (305 words)

	Medical Genetics :: Wake Forest University Baptist Medical Center
		Hypochondroplasia is a skeletal dysplasia characterized by short stature with disproportionately short arms and legs.
		It is assumed that the majority of new cases result from spontaneous mutations and that the unaffected parents of a child with hypochondroplasia have an extremely low risk (<.01%) of having another affected child.
		If an affected individual's partner also has hypochondroplasia (or another dominant form of skeletal dysplasia), genetic counseling becomes more complicated due to the high incidence of genetic heterogeneity and the lack of medical literature addressing these circumstances.
	www1.wfubmc.edu /medicalgenetics/labtests/dna.htm (4667 words)

	MEDLINE_1966-1995 - Results of the search <page 1> (Site not responding. Last check: 2007-11-05)
		Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than those seen in achondroplasia.
		proposed that achondroplasia and hypochondroplasia are allelic based on the similarities in phenotype between the two disorders and the identification of a severely dwarfed individual whose father had achondroplasia and whose mother had hypochondroplasia.
		There is also genetic linkage evidence that hypochondroplasia and achondroplasia map to the same locus.
	www.bireme.br /cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&nextAction=lnk&base=MEDLINE_1966-1995&exprSearch=7670477&indexSearch=UI&lang=i (283 words)

	MEDLINE_1966-1995 - Resultado página 1 (Site not responding. Last check: 2007-11-05)
		Hypochondroplasia is a genetic disorder of disproportionate short stature.
		Linkage analysis provisionally placed hypochondroplasia in the chromosome 4p 16.3 region, a location to which the FGFR3 gene has been mapped.
		The genotyping of a three-generation family showed no recombinants between the hypochondroplasia phenotype and three highly polymorphic markers flanking the FGFR3 gene.
	www.bireme.br /cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&nextAction=lnk&base=MEDLINE_1966-1995&exprSearch=8589686&indexSearch=UI&lang=p (239 words)

	A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia - ...
		Walker, B.A., Murdoch, J.L., McKusick, V.A., Langer, L.O. and Beals, R.K. Hypochondroplasia.
		McKusick, V.A., Kelly, T.E. and Dorst, J.P. Observations suggesting allelism of the hypochondroplasia and achondroplasia genes.
		Mullis, P.E., Patel, M.S., Brickell, P.M., Hindmarsh, P.C. and Brook, C.G.D. Growth characteristic and reponse to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromsome 12q23 to the disease in a subgroup of these patients.
	www.nature.com /doifinder/10.1038%2Fng0795-357 (767 words)

	TLC :: Little People, Big World :: FAQ
		The arms and legs of a person with achondroplasia are perfectly appropriate for someone with that genetic condition.) The average height of adults with achondroplasia is 4'0".
		As one might expect from their names, pseudoachondroplasia and hypochondroplasia are conditions that are frequently confused with achondroplasia; diastropic dysplasia occasionally is, too.
		These conditions are essentially untreatable, although some people with achondroplasia and hypochondroplasia have undergone painful (and controversial) limb-lengthening surgery.
	tlc.discovery.com /fansites/lpbw/faq.html (700 words)

	P.O.V. - Big Enough . What is Dwarfism? \| PBS
		Proportionate dwarfism — that is, a short-stature condition that results in the arms, legs, trunk, and head being the same size in relation to each other as would be expected with an average-sized person — is often the result of a hormonal deficiency, and may be treated medically.
		Type III is a dwarfism condition, with adults generally reaching a height of three feet, although profound short stature is often associated with the other three types as well.
		In appearance, pseudoachondroplastic dwarfs share the same height as those with achondroplasia, but their head size is the same as that of average-size people, and they lack the facial features characteristic of achondroplasia.
	www.pbs.org /pov/pov2005/bigenough/special_dwarfism.html (1091 words)

	Skeletal dysplasias -- Brook and de Vries 79 (3): 285 -- Archives of Disease in Childhood (Site not responding. Last check: 2007-11-05)
		A male patient was seen in hospital for advice about short stature at the age of 5.7 years.
		The situation in hypochondroplasia, a more common disorder, is complicated.
		hypochondroplasia, a failure of the interpedicular width to increase
	adc.bmjjournals.com /cgi/content/full/79/3/285 (2355 words)

	Hypochondroplasia
		This is a technical description of the dwarfing conditions known as hypochondroplasia.
		Hypochondroplasia: Hypochondroplasia is a type of short-limb dwarfism with shortening
		HYPOCHONDROPLASIA: Hypochondroplasia (HCH) is a disorder that resembles
	health.cancer-help.org /web/Hypochondroplasia.html (320 words)

	HYPOCHONDROPLASIA (Site not responding. Last check: 2007-11-05)
		Hypochondroplasia, a chondrodystrophy with autosomal dominant inheritance, is a form of short staure where there is rhizomelic shortening of the long bones.
		• Hypochondroplasia also has macrocephaly, but lacks the craniofacial features found in other forms of short limb dwarfism.
		• Prinster C et al: Diagnosis of hypochondroplasia: The role of radiological interpretation.
	www.mypacs.net /cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=864423&cx_breadcrumb_trail=User%20Case&cx_image_only_mode=off&cx_from_folder=793782&cx_repo=mpv3_repo (310 words)

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