Achondroplasia

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252 relevant articles (10 outcomes, 16 trials/studies) found for this Disease

Description: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Also Known As:

Achondroplasias

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 83

Bone Diseases: 2376

Developmental Bone Diseases: 63

Dwarfism: 680

Achondroplasia: 252

Osteochondrodysplasias: 374

Achondroplasia: 252

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 420

Inborn Genetic Diseases: 548

Dwarfism: 680

Achondroplasia: 252

Related Diseases

1.	Pathologic Constriction (Stenosis)
2.	Congenital Abnormalities (Deformity)
3.	Seizures (Seizure)
4.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
5.	Kyphosis
82 Diseases and 122 more articles analyzed in the Research Interface, order at left...

Experts

1.	Ain, Michael C: 4 articles (02/2008 - 09/2004)
2.	Chang, Tai-Li: 2 articles (02/2008 - 05/2007)
3.	Schkrohowsky, Joshua G: 2 articles (02/2008 - 05/2007)
4.	Hristova, Kalina: 2 articles (11/2006 - 05/2006)
5.	Carson, Benjamin S: 2 articles (03/2006 - 12/2004)
6.	Lunstrum, Gregory P: 2 articles (01/2004 - 12/2002)
7.	Horton, William A: 2 articles (01/2004 - 12/2002)
8.	Setti, Paolo Levi: 1 article (03/2008)
9.	Baldi, Maurizia: 1 article (03/2008)
10.	Natacci, Federica: 1 article (03/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Achondroplasia:

1.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 06/01/2002 - "OBJECTIVE: [corrected] To investigate the mutation at the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) nucleotide 1138 site for identifying the major pathologic mechanism of achondroplasia (ACH) and to evaluate the efficacy of denaturing gradient gel electrophoresis(DGGE) method for screening the point mutations" 11/01/1998 - "Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations" 01/02/1995 - "Recent studies mapped the achondroplasia gene on chromosome region 4p16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3)" 07/01/2007 - "INTRODUCTION: Achondroplasia (Ach), the most common form of short-limb short stature, and related disorders are caused by constitutively active point mutations in the fibroblast growth factor receptor 3 (FGFR3) gene" 07/01/2007 - "We describe a Klinefelter patient (non-mosaic 47,XXY karyotype) who was heterozygous for the classical 1138G>A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which is a gain-of-function mutation resulting in achondroplasia" Get all the results and reference details, order at left...
2.	DNA (Deoxyribonucleic Acid)IBA 11/01/2004 - "Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report." 04/01/1988 - "Two lines of evidence speak against mutation in COL2A1 as the cause of achondroplasia: (1) no gross rearrangements are seen on Southern blot analysis of DNA from probands, and (2) linkage studies in multiplex families demonstrate discordant inheritance of achondroplasia and COL2A1 alleles." 08/01/2008 - "CONCLUSION: Achondroplasia could be diagnosed prenatally in the fetuses affected with short-limb dysplasias by using PCR-RFLP and DNA sequencing of the exon 10 of the FGFR3 gene." 03/15/2008 - "Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs." 01/01/2007 - "The fetal G1138A mutation was detectable in the two achondroplasia-affected pregnancies by the analysis of cf-DNA in maternal plasma using MALDI-TOF MS. However, the size-fractionation approach led to a more precise detection of the fetal mutation in both analyses" Get all the results and reference details, order at left...
3.	Human Growth Hormone (Saizen)FDA LinkGeneric 03/01/1992 - "A pilot study was carried out to examine the safety and efficacy of recombinant human growth hormone for growth-promoting therapy of achondroplasia" 10/03/1997 - "The efficacy and safety of recombinant human growth hormone (hGH) administration was studied in children with achondroplasia" 11/01/1996 - "Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia." 02/02/1996 - "We studied the effects of recombinant human growth hormone (GH) treatment in 6 prepubertal children with achondroplasia" 02/02/1996 - "Human growth hormone treatment in prepubertal children with achondroplasia." Get all the results and reference details, order at left...
4.	C-Type Natriuretic Peptide (Peptide, C-Type Natriuretic)IBA 12/01/2003 - "The possible novel treatment of achondroplasia, C-type natriuretic peptide (CNP)]" 06/01/2005 - "We previously reported that C-type natriuretic peptide (CNP) stimulates endochondral ossification and corrects the reduction in body length of achondroplasia model mouse with constitutive active fibroblast growth factor receptor 3 (FGFR-3)" Get all the results and reference details, order at left...
5.	Growth Hormone (Somatotropin)IBA 10/01/2005 - "AIM: In a 5-y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children with achondroplasia" 10/01/2005 - "Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial." 01/01/2001 - "Growth hormone (GH) has been used in different studies in patients with achondroplasia in order to ameliorate their height, and short term results range from rather positive to moderate" 02/01/2003 - "The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia." 01/01/2000 - "Growth hormone therapy in achondroplasia." Get all the results and reference details, order at left...
6.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 04/18/1998 - "BACKGROUND: The main goal of the study is to investigate in the Spanish population the value of searching for the Gly380Arg mutation in the transmembrane domain of fibroblast growth factor receptor-3 (FGFR3#) as the basis for the molecular diagnosis of achondroplasia" 12/01/2005 - "Fibroblast growth factors (FGFs) are also important regulators of chondrocyte proliferation and differentiation, and activating mutations of FGF receptor-3 (FGFR3) cause achondroplasia" 08/03/2001 - "Fibroblast growth factor (FGF) and its receptor (FGFR) are thought to be negative regulators of chondrocytic growth, as exemplified by achondroplasia and related chondrodysplasias, which are caused by constitutively active mutations in FGFR3" 06/02/2001 - "From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]" 10/01/1999 - "A disorder in which the stem cells responsible for bone growth are mutated is achondroplasia; the mutation resides in the fibroblast growth factor receptor-3" Get all the results and reference details, order at left...
7.	SilverIBA 01/01/1995 - "In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, Silver-Russell and Prader-Willi syndrome patients, to achondroplasia and hypochondroplasia patients, and to Down syndrome patients" 09/01/1992 - "The effects of Down, Seckel, Turner, Russell-Silver, Prader-Willi, and Noonan syndromes on growth and the growth-inhibiting features of achondroplasia, hypophosphatemic rickets, and Laron dwarfism are reviewed" 09/01/1981 - "The causes of growth disturbances of organic origin are chromosomal aberrations (e.g., Down syndrome), dysmorphology syndromes (e.g., Russell-Silver syndrome), endocrinopathies (e.g., hypopituitary dwarfism), chronic diseases (e.g., celiac disease), and bone dysplasias (e.g., achondroplasia)." 01/01/1995 - "Our sample included an initial group of 40 patients who had growth delay/constitutional delay of growth and puberty (n = 10), growth hormone insufficiency/deficiency (n = 15), low birth weight/Silver-Russell syndrome (n = 9), precocious puberty (n = 6), as well as 20 patients with various skeletal dysplasias (multiple epiphyseal dysplasia n = 7, pseudoachondroplasia n = 7, acrodysostosis n = 5, achondroplasia n = 1), 7 girls with Turner syndrome, and 10 boys with nephrotic syndrome on chronic corticosteroid treatment" Get all the results and reference details, order at left...
8.	Cytochromes a3IBA 12/01/1989 - "Studies of mitochondrial preparations from human skin fibroblasts (grown in tissue culture) from normal human subjects and subjects with homozygous achondroplasia demonstrated that concentrations of cytochrome a3 were decreased approximately 80% in preparations from homozygous achondroplastic cells" 04/15/1987 - "Cytochrome a3 deficiency in human achondroplasia." Get all the results and reference details, order at left...
9.	Proteins (Proteins, Gene)IBA 11/15/2006 - "Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation." 01/01/1996 - "Analysis of cellular proteins in achondroplasia by two-dimensional electrophoresis." Get all the results and reference details, order at left...
10.	Fibroblast Growth Factor 3IBA 01/01/2000 - "Recent studies have found that mutations in the receptor for fibroblast growth factor 3 (FGFR3) cause achondroplasia, hypochondroplasia and thanatophoric dysplasia" Get all the results and reference details, order at left...
79 Drugs and Important Bio-Agents and 198 more articles analyzed in the Research Interface, order at left...

Therapies and Procedures

1.	Decompression 07/01/1994 - "Thus, cervicomedullary compression in patients with achondroplasia can be successfully treated with dorsal decompression of the craniovertebral junction" 11/01/1996 - "This preliminary experience indicates that in children 2 years of age or younger, posterior fossa bony decompression without duraplasty can be effective treatment for Chiari malformations or achondroplasia." 05/01/2007 - "In this study, clinical outcomes were assessed in children with achondroplasia after spinal canal decompression" 03/01/2006 - "The goal in this study was to assess the outcomes in children with achondroplasia who underwent cervicomedullary decompression" 05/01/2007 - "CONCLUSIONS: Decompression of the spinal canal in pediatric patients with achondroplasia can be accomplished safely with significant clinical benefit" Get all the results and reference details, order at left...
2.	Laminectomy 02/01/2008 - "Our objective was to determine the perioperative complication rates associated with laminectomies in patients with achondroplasia" 02/01/2008 - "However, perioperative complications of multilevel laminectomies in patients with achondroplasia rarely are reported" 02/01/2008 - "Rates of perioperative complications associated with laminectomies in patients with achondroplasia." 05/15/2007 - "Through a retrospective medical record review of the initial laminectomies of all individuals with achondroplasia at our institution for whom adequate records were available, we evaluated the influence of BMI on surgical outcomes after laminectomy via four criteria: (1) change in Rankin score; (2) change in walking distance; (3) intra-operative and post-operative complications; and (4) need for subsequent revision laminectomies" 05/15/2007 - "Laminectomies and achondroplasia: does body mass index influence surgical outcomes?" Get all the results and reference details, order at left...
3.	Tissue Therapy (Cell Therapy) 09/01/2007 - "To assess the efficacy of this cell therapy, retrospective comparative study was conducted between the bones treated with BMC and PRP and the bones treated without BMC and PRP during DO in patients with achondroplasia (ACH) and hypochondroplasia (HCH)" Get all the results and reference details, order at left...
4.	Arthrodesis 09/15/2004 - "Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia." 09/15/2004 - "CONCLUSIONS: Spinal arthrodesis with vertebral body and/or pedicle screw instrumentation was a reliable technique for treating thoracolumbar kyphosis in achondroplasia and did not precipitate any of the neuromonitoring difficulties or neurologic deficits that have been reported in previous studies." Get all the results and reference details, order at left...
5.	Cesarean Section (Caesarean Section) 06/11/1999 - "The patient was born by cesarean section at 37 weeks of gestation and had rhizomelic shortness of limbs with excess skin creases, large head, and small chest, diagnostic of achondroplasia" 10/01/1998 - "We describe the anaesthetic management of a parturient with achondroplasia presenting for Caesarean section under epidural anaesthesia" 09/01/1992 - "The existing literature on the anaesthetic management of achondroplasia for Caesarean section is reviewed and considerations are presented concerning the choice of local anaesthetic, the epidural test dose, and dose titration." 03/01/1990 - "Extradural anaesthesia for caesarean section in achondroplasia." 02/01/1990 - "A patient with achondroplasia presented for elective Caesarean section under epidural anaesthesia" Get all the results and reference details, order at left...
28 Therapies and Procedures and 61 more articles analyzed in the Research Interface, order at left...

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