Achondroplasia

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:

Networked: 384 relevant articles (11 outcomes, 20 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pathologic Constriction (Stenosis)
2.	Congenital Abnormalities (Deformity)
3.	Seizures (Seizure)
4.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
5.	Kyphosis

Experts

1.	Ain, Michael C: 10 articles (12/2014 - 09/2004)
2.	Legeai-Mallet, Laurence: 9 articles (01/2016 - 10/2002)
3.	Tanaka, Hiroyuki: 7 articles (10/2010 - 01/2003)
4.	Seino, Yoshiki: 6 articles (03/2009 - 01/2003)
5.	Yasoda, Akihiro: 5 articles (02/2015 - 12/2003)
6.	Kitoh, Hiroshi: 5 articles (02/2015 - 10/2004)
7.	Benoist-Lasselin, Catherine: 5 articles (12/2012 - 10/2002)
8.	Munnich, Arnold: 5 articles (12/2012 - 06/2007)
9.	Horton, William A: 5 articles (01/2012 - 12/2002)
10.	Yayon, Avner: 5 articles (04/2008 - 05/2002)

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 - "[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). " 03/01/2015 - "The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. " 01/01/2014 - "Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3). "
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." 03/01/2011 - "These data should improve the accuracy of diagnosis of achondroplasia based on sonographic findings, and have implications for targeted molecular confirmation that can reliably and safely be carried out using cell-free fetal DNA." 03/01/2011 - "Analysis of cell-free fetal DNA in six pregnancies confirmed the presence of the c.1138G > A mutation in the FGRF3 gene in four cases with achondroplasia, but not the two subsequently found to be growth restricted. " 03/01/2011 - "To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. "
3.	C-Type Natriuretic Peptide (Peptide, C-Type Natriuretic)IBA 12/01/2003 - "[The possible novel treatment of achondroplasia, C-type natriuretic peptide (CNP)]." 01/01/2016 - "C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia." 12/15/2012 - "C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth and represents a potential therapy for achondroplasia. " 02/01/2015 - "C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia." 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). "
4.	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."
5.	Growth Hormone (Somatotropin)IBA 10/01/2005 - "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. " 10/01/2012 - "The treatment with growth hormone is approved for achondroplasia in Japan. " 02/01/2003 - "The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia."
6.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 04/18/1998 - "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. " 04/01/2009 - "Achondroplasia, the most common skeletal dysplasia, is caused by a mutation of fibroblast growth factor receptor-3. " 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]."
7.	congenita Spondyloepiphyseal dysplasiaIBA 01/01/1985 - "The present study delineates four more patterns and their families: the achondroplasia pattern, spondyloepiphyseal dysplasia congenita pattern, the Larsen/OPD pattern and the Stickler/Kniest pattern." 09/01/2006 - "To define the sonographic features of spondyloepiphyseal dysplasia congenita (SEDC) and the double heterozygote for SEDC and achondroplasia. " 10/01/2003 - "Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia." 07/01/1995 - "A rare instance of double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia is presented. " 11/01/1992 - "His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. "
8.	Prostaglandins D (PGD)IBA 02/01/2008 - "PB analysis is a reliable and sensitive method for PGD for maternal achondroplasia." 06/01/2003 - "To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD). " 03/01/2003 - "We report the first attempts at preimplantation genetic diagnosis (PGD) and IVF and their accompanying difficulties for achondroplasia (ACH) patients. " 02/01/2008 - "Achondroplasia, the most common form of dwarfism, is a candidate for preimplantation genetic diagnosis (PGD) because a single mutation accounts for almost all cases. " 12/18/2013 - "In the study, 12 PGD systems were set up including 6 different monogenic diseases (spinal muscular atrophy, Duchenne muscular dystrophy, X-linked chronic granulomatous disease, osteopetrosis, achondroplasia, X-linked severe combined immunodeficiency), Robertsonian translocations, α-thalassemia combined with Robertsonian translocation, α- and β-double thalassemia, β-thalassemia with HLA typing and DMD with HLA typing. "
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." 01/01/2012 - "The dominant congenital disorders Apert syndrome, achondroplasia and multiple endocrine neoplasia-caused by specific missense mutations in the FGFR2, FGFR3 and RET proteins respectively-represent classical examples of paternal age-effect mutation, a class that arises at particularly high frequencies in the sperm of older men. "
10.	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."

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. " 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. " 05/01/2015 - "Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. " 05/01/2015 - "We present our experience with early cervicomedullary decompression in infants with achondroplasia. "
2.	Laminectomy 05/15/2011 - "To describe a cohort of individuals with achondroplasia undergoing thoracolumbar laminectomy and to examine if shorter time to surgery was related to improvement in long-term functional outcome. " 05/15/2011 - "Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function." 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."
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). "
4.	Arthrodesis 09/15/2004 - "Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia." 09/15/2004 - "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."
5.	Cesarean Section (Caesarean Section) 08/01/2014 - "We report the case of a woman with achondroplasia who underwent general anaesthesia for an elective caesarean section. " 08/01/2014 - "Achondroplasia: anaesthetic challenges for caesarean section." 06/01/2014 - "A 27-year-old parturient (height, 130 cm; weight, 43 kg) with achondroplasia, which is characterized by rhizomeric short stature, large head and frontal bossing, was scheduled for elective caesarean section (C/S) because of her contracted pelvis. " 04/01/2013 - "Ultrasound-guided combined spinal-epidural anaesthesia for elective caesarean section in a patient with achondroplasia." 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. "