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Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)

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Abnormal development of cartilage and bone.

Also Known As:

Spondyloepiphyseal Dysplasia; Osteochondrodysplasia; Epiphyseal Dysplasia, Multiple; Melnick Needles Syndrome; Hyperostosis Corticalis Generalisata; Dyschondroplasia; Dysplasia, Spondyloepiphyseal; Syndrome, Melnick-Needles; Syndrome, Schwartz-Jampel; Multiple Epiphyseal Dysplasia; Melnick-Needles Osteodysplasty; Osteodysplasty of Melnick and Needles; Dysplasia, Multiple Epiphyseal; Dysplasias, Multiple Epiphyseal; Dysplasias, Spondyloepiphyseal; Epiphyseal Dysplasias, Multiple; Melnick Needles Osteodysplasty; Multiple Epiphyseal Dysplasias; Osteodysplasty, Melnick-Needles; Schwartz Jampel Syndrome; Spondyloepiphyseal Dysplasias; Dyschondroplasias; Melnick-Needles Syndrome; Schwartz-Jampel Syndrome

Networked: 551 relevant articles (10 outcomes, 32 trials/studies)

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 179
- Bone Diseases: 3566
  - Developmental Bone Diseases: 198
    - Osteochondrodysplasias: 551

Related Diseases

1.	Rickets (Rachitis)
2.	Weight Gain
3.	Osteochondrosis (Osgood Schlatter Disease)
4.	Osteoarthritis
5.	Hypertrichosis

Experts

1.	Briggs, Michael D: 19 articles (06/2015 - 05/2002)
2.	Ikegawa, Shiro: 12 articles (08/2012 - 12/2002)
3.	Nishimura, Gen: 11 articles (08/2012 - 12/2002)
4.	Hecht, Jacqueline T: 11 articles (02/2012 - 03/2002)
5.	Boot-Handford, Raymond P: 8 articles (01/2015 - 07/2007)
6.	Superti-Furga, Andrea: 8 articles (08/2012 - 10/2003)
7.	Hecht, J T: 8 articles (10/2011 - 06/2000)
8.	Robertson, Stephen P: 7 articles (01/2012 - 04/2003)
9.	Bell, Peter A: 6 articles (06/2015 - 11/2010)
10.	Zaucke, Frank: 6 articles (01/2015 - 10/2006)

Drugs and Biologics

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

1.	hydroxide ionIBA 09/01/1990 - "Two active compounds tested [1,25-(OH)2D3 and 1,24R,25-(OH)3D3] at 5 micrograms/kg of diet were effective in reducing either the incidence or severity of tibial dyschondroplasia." 02/01/1997 - "Three experiments were conducted to examine the efficacy of dietary 1,25-dihydroxycholecalciferol [(1,25-(OH)2D3)] on the development of tibial dyschondroplasia (TD) in chickens divergently selected for high (HTD) and low (LTD) incidences of TD. " 07/01/2000 - "Studies indicate that dietary supplementation with 1,25-dihydroxycholecalciferol [1,25(OH)2D3] will reduce the incidence of tibial dyschondroplasia in three different strains of broilers bred to develop a high incidence of the disease. " 01/01/1996 - "Studies were conducted to evaluate the level of dietary 1,25-dihydroxycholecalciferol [1,25-(OH)2D3] required to decrease the incidence of tibial dyschondroplasia (TD) in male broilers at 3 and 5 wk of age. " 09/01/1995 - "Two experiments were conducted to determine whether dietary 1,25-dihydroxycholecalciferol [1,25-(OH)2D3] can prevent tibial dyschondroplasia in broiler chickens throughout the growing period when withdrawn from the grower diet. "
2.	Cholecalciferol (Vitamin D3)FDA Link 07/01/2000 - "Only a few studies have been conducted on the efficacy of various vitamin D3 derivatives to prevent tibial dyschondroplasia. " 10/01/2010 - "Effect of the level of cholecalciferol supplementation of broiler diets on the performance and tibial dyschondroplasia." 01/01/2006 - "A series of experiments was conducted to investigate the effects of maternal dietary vitamin D3 supplementation at 4 different times during the laying cycle, on the performance and bone quality of broiler chicks fed a diet that induced tibial dyschondroplasia (TD) or an adequate diet. " 01/01/2006 - "The effect of maternal dietary vitamin D3 supplementation on performance and tibial dyschondroplasia of broiler chicks." 02/01/1997 - "The effects of ultraviolet light and cholecalciferol and its metabolites on the development of leg abnormalities in chickens genetically selected for a high and low incidence of tibial dyschondroplasia."
3.	CalciumIBA 06/01/2011 - "This experiment was conducted to investigate and compare the efficacy of different feed additives on performance, tibial dyschondroplasia (TD) incidence and tibia characteristics of male broilers fed low-calcium diets. " 06/01/2011 - "Effects of non-antibiotic feed additives on performance, tibial dyschondroplasia incidence and tibia characteristics of broilers fed low-calcium diets." 09/01/1995 - "When 1,25-(OH)2D3 was fed, tibial dyschondroplasia was reduced in Experiment 2 only at 3 wk. Tibial dyschondroplasia was decreased at 5 wk in Experiment 2 when .65% calcium was fed with or without 1,25-(OH)2D3 from 3 to 5 wk of age. " 07/01/1995 - "4. The incidence of tibial dyschondroplasia (TD) at 3 weeks of age was highest with the basal diet containing 7.5 g calcium/kg and was markedly reduced by addition of 1,25-DHCC and/or calcium. " 05/01/1993 - "Additive amelioration of tibial dyschondroplasia in broilers by supplemental calcium or feed deprivation."
4.	PhosphorusIBA 06/01/2006 - "1. Performance, gait score (GS), tibial dyschondroplasia (TD), and tibia bone mineralisation and breaking strength were determined in 2880 male and female Ross 208 broilers fed on diets with two different concentrations of dietary metabolisable energy (ME) (11.00 or 12.00 MJ/kg) and 4 different concentrations of available phosphorus (aP) adjusted for dietary ME content (4.0, 4.5, 5.0 or 5.5 g/kg aP in starter and 3.5, 4.0, 4.5 or 5.0 g/kg aP in finisher diets containing 12.00 MJ/kg). " 09/01/1989 - "In two experiments, a high dietary level of available phosphorus (.65%) in the presence of high chloride concentrations (.36%) was associated with a significant increase in the incidence of tibial dyschondroplasia (TD) in male broiler chickens. " 10/01/1987 - "Before typical dyschondroplasia developed, chickens fed a high level of phosphorus had uniformly thickened growth plates at 2 weeks of age. " 10/01/1987 - "Tibial dyschondroplasia was not eliminated by feeding a ration containing 1.5% calcium and 0.5% available phosphorus. " 07/01/2002 - "Role of dietary calcium and available phosphorus in the aetiology of tibial dyschondroplasia in growing turkeys."
5.	Calcitriol (Calcijex)FDA LinkGeneric 02/01/1997 - "Three experiments were conducted to examine the efficacy of dietary 1,25-dihydroxycholecalciferol [(1,25-(OH)2D3)] on the development of tibial dyschondroplasia (TD) in chickens divergently selected for high (HTD) and low (LTD) incidences of TD. " 07/01/2000 - "Studies indicate that dietary supplementation with 1,25-dihydroxycholecalciferol [1,25(OH)2D3] will reduce the incidence of tibial dyschondroplasia in three different strains of broilers bred to develop a high incidence of the disease. " 01/01/1996 - "Studies were conducted to evaluate the level of dietary 1,25-dihydroxycholecalciferol [1,25-(OH)2D3] required to decrease the incidence of tibial dyschondroplasia (TD) in male broilers at 3 and 5 wk of age. " 03/01/1996 - "In vivo and in vitro effect of 1,25-dihydroxyvitamin D3 and 1,25-dihydroxy-16-ene-23-yne-vitamin D3 on the proliferation and differentiation of avian chondrocytes: their role in tibial dyschondroplasia." 09/01/1995 - "Two experiments were conducted to determine whether dietary 1,25-dihydroxycholecalciferol [1,25-(OH)2D3] can prevent tibial dyschondroplasia in broiler chickens throughout the growing period when withdrawn from the grower diet. "
6.	Thiram FDA Link 12/01/2007 - "1. An experiment was conducted to study the effect of thiram on liver antioxidant capacity and incidence of tibial dyschondroplasia in broilers. " 02/01/2013 - "Thiram is a dithiocarbamate pesticide that causes tibial dyschondroplasia (TD), a growth plate defect, in poultry. " 04/01/2009 - "Identification of differentially expressed genes in the growth plate of broiler chickens with thiram-induced tibial dyschondroplasia." 12/01/2007 - "Effect of diet with thiram on liver antioxidant capacity and tibial dyschondroplasia in broilers." 11/01/2007 - "Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia."
7.	Vitamin D FDA LinkGeneric 09/01/1990 - "Efficacy of several vitamin D compounds in the prevention of tibial dyschondroplasia in broiler chickens." 07/01/2000 - "These studies indicate that these high tibial dyschondroplasia strains have a defect(s) in vitamin D metabolism. " 01/01/1997 - "A series of experiments was conducted to test the hypothesis that vitamin D utilization may not be as efficient in chicks with tibial dyschondroplasia (TD). " 02/01/1997 - "Four experiments were conducted to investigate the effects of ultraviolet (UV) light exposure and several cholecalciferol metabolites on the development of tibial dyschondroplasia (TD) and other parameters associated with vitamin D metabolism in chickens selected for high (HTD) and low (LTD) incidence of TD. " 02/01/1997 - "Dietary 1,25-dihydroxycholecalciferol has variable effects on the incidences of leg abnormalities, plasma vitamin D metabolites, and vitamin D receptors in chickens divergently selected for tibial dyschondroplasia."
8.	CollagenIBA 01/01/2015 - "Complete absence of collagen II in mice is not compatible with life and in humans mutations in the COL2A1 gene lead to osteochondrodysplasias with diverse phenotypes. " 01/01/2015 - "Mutations in collagen II, a main structural protein of cartilage, are associated with various forms of spondyloepiphyseal dysplasia (SED), whose main features include aberrations of linear growth. " 01/01/2015 - "Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II." 01/01/2014 - "The proband's x-rays revealed epiphyseal changes characteristic of multiple epiphyseal dysplasia associated with a collagen IX defect, with manifestations primarily restricted to the knees. " 05/28/2010 - "Mutations in collagen II are associated with spondyloepiphyseal dysplasia, a group of heritable diseases whose common features include aberrations of skeletal growth. "
9.	Calcifediol (Calcidiol)FDA Link 07/01/2002 - "We hypothesised that as OC has some similarities to dyschondroplasia, which involves a failure of growth plate chondrocytes to fully differentiate and hypertrophy, treatment with 25-hydroxyvitamin D3 (25-D) might reduce the incidence and/or severity of lesions in pigs, as it does in chickens with dyschondroplasia. " 12/01/2004 - "Effect of casein phosphopeptide and 25-hydroxycholecalciferol on tibial dyschondroplasia in growing broiler chickens." 12/01/2004 - "1. An experiment was conducted to investigate the influence of dietary casein phosphopeptides and 25-hydroxycholecalciferol on the incidence of tibial dyschondroplasia (TD) in 14-d-old commercial broiler chickens. " 07/01/2000 - "Ascorbic acid may play a role in stimulating 1-hydroxylation of 25-hydroxycholecalciferol [25-(OH)D3], but the evidence is not clear under exactly what conditions this relationship is important in practical prevention of tibial dyschondroplasia. " 04/01/1994 - "Effect of genetic strain, calcium, and feed withdrawal on growth, tibial dyschondroplasia, plasma 1,25-dihydroxycholecalciferol, and plasma 25-hydroxycholecalciferol in sixteen-day-old chickens."
10.	6-Phytase (Phytase)IBA 01/01/1996 - "The addition of 1,25-(OH)2D3, but not phytase, reduced Ca requirements and decreased the incidence of tibial dyschondroplasia. " 06/01/2001 - "A study was conducted to determine the effect of dietary supplementation of phytase on the incidence and severity of tibial dyschondroplasia (TD) in chickens selected for high (HTD) and low (LTD) incidences of TD for 11 generations. " 06/01/2001 - "Influence of dietary phytase supplementation on incidence and severity in broilers divergently selected for tibial dyschondroplasia."

Therapies and Procedures

1.	Arthroplasty 02/01/2004 - "In this study, we evaluated the long-term clinical and radiographic outcomes of total hip arthroplasty in patients with osteochondrodysplasia. " 09/01/2009 - "Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia." 01/01/2009 - "Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia." 01/01/1988 - "[Spondyloepiphyseal dysplasia tarda: bilateral total arthroplasty of the hip]." 09/01/2009 - "We report on 7 subjects affected by multiple epiphyseal dysplasia, which presented hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasty. "
2.	Osteotomy 01/01/2003 - "The Steel triple osteotomy of the innominate bone permits correction of abnormal anatomical conditions of hip joints in severe multiple epiphyseal dysplasia. " 01/01/2003 - "A comparison of our results with those of other authors was not possible since no literature data were available on the Steel osteotomy in patients with multiple epiphyseal dysplasia. " 01/01/2003 - "The presentation of our results of surgical treatment of the hip joints affected by multiple epiphyseal dysplasia, using the Steel technique of triple osteotomy of the innominate bone in children. " 07/01/1999 - "Transtrochanteric curved varus femoral osteotomy for spondyloepiphyseal dysplasia tarda. " 01/01/2008 - "Bilateral valgus-extension osteotomy of hip using hybrid external fixator in spondyloepiphyseal dysplasia: early results of a salvage procedure."
3.	Distraction Osteogenesis 06/01/2011 - "Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome." 01/01/2008 - "Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome." 01/01/2008 - "To our knowledge, this is the first reported case of mandibular distraction osteogenesis used to cure obstructive sleep apnea and eliminate the need for tracheostomy in a patient with Melnick-Needles syndrome. " 01/01/2008 - "This is a report of a patient with Melnick-Needles syndrome who presented to our unit after multiple bouts of respiratory failure and with a tracheostomy in whom mandibular distraction osteogenesis was used to retire her tracheostomy and to cure her sleep apnea. "
4.	Tracheostomy 07/01/1993 - "Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea." 01/01/2008 - "To our knowledge, this is the first reported case of mandibular distraction osteogenesis used to cure obstructive sleep apnea and eliminate the need for tracheostomy in a patient with Melnick-Needles syndrome. " 01/01/2008 - "This is a report of a patient with Melnick-Needles syndrome who presented to our unit after multiple bouts of respiratory failure and with a tracheostomy in whom mandibular distraction osteogenesis was used to retire her tracheostomy and to cure her sleep apnea. "
5.	Injections 01/01/2009 - "Botulinum toxin A injections for the treatment of Schwartz-Jampel syndrome: a case series." 01/01/2006 - "A 6-year-old boy with Schwartz-Jampel syndrome and severe myotonia-induced blepharospasm and ptosis did not respond to botulinum toxin A injections in the orbicularis muscle. " 01/01/2006 - "Schwartz-Jampel syndrome: surgical management of the myotonia-induced blepharospasm and acquired ptosis after failure with botulinum toxin A injections."