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Chondrodysplasia with Joint Dislocations Type gPAPP

Chondrodysplasia with Joint Dislocations gPAPP


Presentation

  • Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations.[books.google.com]
  • Acronym CDP-GPAPP Synonyms GPAPP deficiency Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The autosomal recessive cases reported in the past may perhaps correspond to parental germline mosaicism, but are more likely to represent more recently defined recessive syndromes with similar presentations.[orpha.net]
  • Clubfoot is also present in 75 %.[musculoskeletalkey.com]
  • In this case report we describe a child presenting with a patterned alopecia in which supplementary signs and clinical examination of the mother led to the suspicion of Conradi-Hünermann-Happle syndrome.[readbyqxmd.com]
Short Stature
  • Format Definition A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.[uniprot.org]
  • Orpha Number: 280586 Disease definition Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations[rarediseases.info.nih.gov]
  • Chondrodysplasia with joint dislocations, GPAPP type (MIM 614078) is an autosomal recessive disorder characterized by short stature, brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism.[ctgt.net]
  • […] recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum ; Hearing impairment ; High forehead ; Micrognathia ; Narrow mouth ; Patellar dislocation ; Proptosis ; Short foot ; Short metacarpal ; Short nose ; Short[mousephenotype.org]
  • STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome dislocated hips and radial heads, carpal coalition, scoliosis, and short stature Related symptoms[mendelian.co]
Short Stature
  • Format Definition A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.[uniprot.org]
  • Orpha Number: 280586 Disease definition Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations[rarediseases.info.nih.gov]
  • Chondrodysplasia with joint dislocations, GPAPP type (MIM 614078) is an autosomal recessive disorder characterized by short stature, brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism.[ctgt.net]
  • […] recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum ; Hearing impairment ; High forehead ; Micrognathia ; Narrow mouth ; Patellar dislocation ; Proptosis ; Short foot ; Short metacarpal ; Short nose ; Short[mousephenotype.org]
  • STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome dislocated hips and radial heads, carpal coalition, scoliosis, and short stature Related symptoms[mendelian.co]
Pain
  • Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound[books.google.com]
  • Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness.[ghr.nlm.nih.gov]
  • Abnormality of the neck Attention deficit hyperactivity disorder Hyperlordosis Vomiting Abnormality of the integument Aplasia of the inferior half of the cerebellar vermis Wide mouth Thin upper lip vermilion Atrophy of the dentate nucleus Feeding difficulties Pain[mendelian.co]
  • They are characterized by severe short stature, deformity, and various complications such as chronic joint pain and disabilities in daily life.[p3.snf.ch]
  • American Association of Anatomists # 197 Michael D Briggs, Joanne Brock, Simon C Ramsden, Peter A Bell Pseudoachondroplasia (PSACH) and autosomal dominant multiple epiphyseal dysplasia (MED) are chondrodysplasias resulting in short-limbed dwarfism, joint pain[readbyqxmd.com]
Amyloidosis
  • […] or without anosmia (HH18) [MIM: 615267 ] Q8NFM7 non-pleiotropic VAR_069936 p.Lys131Thr Disease rs184758350 0.001 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM: 615267 ] Q8NI17 non-pleiotropic VAR_065809 p.Ser489Phe Disease - - Amyloidosis[sbg.bio.ic.ac.uk]
  • MEST-Gen) Urticaria pigmentosa KIT del Urticaria-deafness-amyloidosis (UDA) syndrome NLRP3 ( NALP3) VACTERL association HOXD13 del Vacuolar cardiomyopathy and myopathy, X-linked LAMP2 del Van Buchem disease (VBCH) SOST Van der Woude syndrome 1 (VWS1)[uniklinik-freiburg.de]
Short Finger
  • Finger-Flexor Tendons Trismus-Pseudocamptodactyly Syndrome DA7 158300 Genetic Test Registry Arthrogryposis, Distal, Type 9 Beals Syndrome Contractural Arachnodactyly, Congenital DA9 CCA 121050 Genetic Test Registry Arthrogryposis, Renal Dysfunction,[ukgtn.nhs.uk]
Joint Dislocation
  • Orpha Number: 280586 Disease definition Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations[rarediseases.info.nih.gov]
  • Chondrodysplasia with joint dislocations, GPAPP type (MIM 614078) is an autosomal recessive disorder characterized by short stature, brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism.[ctgt.net]
  • Format Definition A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.[uniprot.org]
  • Back to results Chondrodysplasia with joint dislocations, gPAPP type (sequence analysis of IMPAD1 gene) IMPAD1 Request Now Methodology Sanger sequencing Specimen Requirements Descriptive Volume / Concentration 1 Container Transport temperature Sample[cgcgenetics.com]
  • Name Chondrodysplasia With Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum[mousephenotype.org]
Brachydactyly
  • Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly[rarediseases.info.nih.gov]
  • Chondrodysplasia with joint dislocations, GPAPP type (MIM 614078) is an autosomal recessive disorder characterized by short stature, brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism.[ctgt.net]
  • Name Chondrodysplasia With Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum[mousephenotype.org]
  • Isolated Brachydactylies ; 72.1 Brachydactyly A1 ; 72.2 Brachydactyly B ; 72.3 Brachydactyly C ; 72.4 Brachydactyly D ; 72.5 Brachydactyly E ; 72.6 Brachydactyly, Christian type ; 73. Trichorhinophalangeal Dysplasia I ; 74.[amazon.de]
  • […] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow[se-atlas.de]
Skeletal Dysplasia
  • Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias . Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.[radiopaedia.org]
  • Unger Sheila, Bonafé Luisa, Superti-Furga Andrea (2012), New topics in the skeletal dysplasias., in American journal of medical genetics. Part C, Seminars in medical genetics, 160C(3), 143-4.[p3.snf.ch]
  • Our recent work has implicated FGF signaling in a third category: ciliopathic skeletal dysplasias.[readbyqxmd.com]
  • CINCA ; Section II Skeletal Dysplasias with Predominant Epiphyseal Involvement ; 12.[amazon.de]
  • Biochem/physiol Actions In mice, IMPAD1 (inositol monophosphatase domain containing 1) inactivation is linked with skeletal dysplasia and abnormal joint formation.[sigmaaldrich.com]
Genu Valgum
  • Name Chondrodysplasia With Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum[mousephenotype.org]
  • Diseases related with Wide nasal bridge and Genu valgum In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Genu valgum that can help you solving undiagnosed cases.[mendelian.co]
Hearing Impairment
  • In addition, hearing impairment and mild psychomotor delay have also been reported. Last updated: 10/1/2018[rarediseases.info.nih.gov]
  • Chondrodysplasia With Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum ; Hearing[mousephenotype.org]
  • In addition, hearing impairment and mild psychomotor delay have also been reported.[mendelian.co]
  • Impairment, Cleft Lip/Palate, And/Or Mental Retardation COB1 120433 Genetic Test Registry Combined Oxidative Phosphorylation Deficiency 1 Hepatoencephalopathy, Early Fatal Progressive COXPD1 609060 Genetic Test Registry Combined Oxidative Phosphorylation[ukgtn.nhs.uk]
Hearing Impairment
  • In addition, hearing impairment and mild psychomotor delay have also been reported. Last updated: 10/1/2018[rarediseases.info.nih.gov]
  • Chondrodysplasia With Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum ; Hearing[mousephenotype.org]
  • In addition, hearing impairment and mild psychomotor delay have also been reported.[mendelian.co]
  • Impairment, Cleft Lip/Palate, And/Or Mental Retardation COB1 120433 Genetic Test Registry Combined Oxidative Phosphorylation Deficiency 1 Hepatoencephalopathy, Early Fatal Progressive COXPD1 609060 Genetic Test Registry Combined Oxidative Phosphorylation[ukgtn.nhs.uk]
High Forehead
  • Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum ; Hearing impairment ; High[mousephenotype.org]
  • forehead Proptosis Genu valgum Short toe Joint dislocation Coronal craniosynostosis Cubitus valgus Patellar dislocation Delayed skeletal maturation Joint stiffness Thick lower lip vermilion Abnormality of epiphysis morphology Short phalanx of finger[mendelian.co]
Psychomotor Retardation
  • retardation, mild dysmorphism, and impaired neutrophil motility.[mendelian.co]
  • Am J Med Genet 114: 450-457. [ Crossref ] Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, et al. (2011) Exome sequencing reveals a homozygous SYT14 mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation.[oatext.com]
  • retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase[se-atlas.de]
Withdrawn
  • […] symbols: FLJ20421, IMPA3, gPAPP ) Mouse Orthologs Impad1 (Withdrawn symbols: 1110001C20Rik, AA408880, AI451589, AL022796 ) Source OMIM:614078 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols,[mousephenotype.org]
Pelvic Pain
  • Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound[books.google.com]

Workup

Atelectasis
  • In vitro this protein is inhibited by lithium, and mice with IMPAD1 inactivation show neonatal fatality lung aberrations similar to atelectasis, and dwarfism characterized by abnoraml cartilage structure.[sigmaaldrich.com]
Ovarian Mass
  • Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses).[books.google.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Management and treatment Management should be adapted to each patient and may involve orthopedic treatment and monitoring, surgical procedures, especially for hip dislocation, and physiotherapy.[orpha.net]
  • Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3 .[radiopaedia.org]
  • Concomitant treatment using a Pavlik harness for associated developmental dysplasia of the hip was initiated at the age of 6 weeks and to be maintained for at least 4 months.[jcnonweb.com]
  • The aim is to find a common thread while genotyping these two entities that may lead to a common treatment.[oatext.com]

Prognosis

  • Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3 .[radiopaedia.org]
  • Prognosis LS does not affect life-expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • The prognosis of children who have LS is variable and most affected persons have moderate symptoms that can be treated, allowing for a relatively normal life span. In severe forms of LS the prognosis can be poor.[jcnonweb.com]
  • Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions... 2014: Case Reports in Medicine # 193 REVIEW Daigo Ochiai, Kyoko Takamura, Gen Nishimura, Toshiyuki Ikeda, Kazumi Yakubo, Tatsuro Fukuiya[readbyqxmd.com]

Etiology

  • Etiology LS is due to missense mutations or small in-frame deletions in the FLNB gene (localized to 3p14.3) that encodes cytoskeletal protein filamin B.[orpha.net]
  • Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop. 1997;6:159–66. CrossRef Google Scholar 3.[link.springer.com]
  • The underlying etiology of RCDP is a deficiency in the biosynthesis of ether phospholipids, of which plasmalogens are the most abundant form in nervous tissue and myelin; however, the role of plasmalogens in the peripheral nervous system is poorly defined[readbyqxmd.com]

Epidemiology

  • Summary Epidemiology The birth prevalence of Larsen syndrome in Europe is 1/250,000 live births.[orpha.net]
  • In contrast an understanding of the aetiology and pathogenesis of the most common form of non-syndromic joint dislocation, developmental dysplasia of the hip, has remained stubbornly refractory to understanding despite considerable clinical and epidemiological[link.springer.com]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics , 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

Pathophysiology

  • To investigate the exact role of GPC6 in the growth plate and its mechanisms of action we plan to generate a gpc6 knockout mouse and to study the pathophysiology of the skeletal changes in this model.The other two disorders are presently characterized[p3.snf.ch]

Prevention

  • When LS is suspected, cesarean delivery is the preferred mode of delivery to prevent limbs and cervical spine trauma during vaginal delivery.[jcnonweb.com]
  • Mutations in the EBP gene reduce the activity of 3β-hydroxysteroid-Δ8,Δ7-isomerase, preventing cells from producing enough cholesterol.[ghr.nlm.nih.gov]
  • Apoptosis occurred prior to hypertrophy, prevented the formation of a hypertrophic zone, disrupted normal chondrogenic signaling pathways, and eventually caused chondrodysplasia... 2014: PloS One # 199 K Nicole Weaver, Moussa El Hallek, Robert J Hopkin[readbyqxmd.com]
  • […] of a large number of well-characterized individuals in order to identify a broad range of Alzheimer’s disease risk and protective gene variants, with the ultimate goal of facilitating the identification of new pathways for therapeutic approaches and prevention[oatext.com]
  • HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia[uniklinik-freiburg.de]

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