[…] concerns A Chinese girl presented with ocular proptosis, which was first observed at birth. [journals.lww.com]

However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. [books.google.com]

A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 [ncbi.nlm.nih.gov]

• Short Stature

  […] inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia; Recurrent fractures; Scoliosis; Shallow orbits; Short [mousephenotype.org]

  The skull is poorly ossified and frequent diaphyseal fractures of the long bones occur leading to motor delays and short stature. Rib fractures are sometimes seen. Intelligence seems to be normal. [disorders.eyes.arizona.edu]

  Dwarfism (severe short stature), bone fragility with progressive deformity, blue sclerae, dentinogenesis imperfecta Type IV – Mild deforming type. [clinicaladvisor.com]

  Mutations in CRTAP have been described in association with type 2 (perinatally lethal) and type 3 OI (severely-deforming bones with extreme short stature, scoliosis and dentinogenesis imperfecta). [bone-abstracts.org]

• Weakness

  […] anesthesia in pediatric patient with williams syndrome: a ca... 19823665 - Progeria syndrome: a case report. 22669215 - Cortical blindness and posterior reversible encephalopathy syndrome in an older patient. 17952295 - Hiv-associated neuromuscular weakness [biomedsearch.com]

  The complications of Cole Carpenter Syndrome may include: Severe skeletal abnormalities Walking difficulties Frequent fractures due to weak bones Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

  […] of connective tissues = Weakness of connective tissues DI = Dentinogenesis Imperfecta Reference: Literature reference with possible link to publication in PubMed, dbSNP entry or other online resource. [oi.gene.le.ac.uk]

  DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. [checkrare.com]

  Nervous system disease H01589 Systemic primary carnitine deficiency Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. [kegg.jp]

• Fever

  Access personal reporting Related Content This Book Next chapter The Prototype of Hereditary Periodic Fevers: Familial Mediterranean Fever By Afig Berdeli and Sinem Nalbantoglu Related Book First chapter Point Mutations, Their Transition Rates and Involvements [intechopen.com]

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

  CECR1 gene-recurrent fevers and strokes in children. Celiac disease. Cell free DNA test. cell-free DNA (cfDNA) screening. Cenani–Lenz syndrome. Central core disease. [cengage.com]

  1841 - 1912） Norwegian physician Hartmann ハルトマン Hartmann's operation ハルトマン手術 Hartnup ハートナップ Hartnup disease ハートナップ病 Hashimoto 橋本 Hashimoto's disease 橋本病 橋本　策（はかる）（1881 - 1934） 九州大学の外科医 Hassall ハッサル Hassall's corpuscle ハッサル小体 Haverhill ヘーバヒル Haverhill fever [jams.med.or.jp]

  AD 134610 Familial Mediterranean fever, AR 249100 M FSD8 4q28.2 Ceroid lipofuscinosis, neuronal, 7 610951 Macular dystrophy with central cone involvement 616170 M GAT2 14q21.3 Congenital disorder of glycosylation, type IIa 212066 M ID1 Xp22.2 Opitz [institutobernabeu.com]

• Poor Growth

  Features of this condition include Short trunk Poor growth Hydrocephalus Multiple fractures Craniofacial abnormalities Multisutural craniosynostosis Ocular proptosis Marked frontal bossing Midface hypoplasia Micrognathia Genetics[edit] There are three [en.wikipedia.org]

• High Pitched Voice

  pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia; Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Vertebral compression fractures Associated Genes P4HB (Withdrawn symbols: [mousephenotype.org]

  Normal neurologic development has been reported, but abnormal crying (high-pitched voice), and gait and generalized hypotonia are common. Hydrops fetalis has been described in one case. [accessanesthesiology.mhmedical.com]

  The signs and symptoms of Cole Carpenter Syndrome may include: Coronal craniosynostosis High pitched voice Microdontia Orbital craniosynostosis Osteopenia Shallow orbits Vertebral compression fractures Very frequently present symptoms in 80-99% of the [dovemed.com]

  pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia 0000938 Shallow orbits Decreased depth of eye sockets Shallow eye sockets [ [rarediseases.info.nih.gov]

• Failure to Thrive

  Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs. He was the second child of non-consanguineous parents born of an uncomplicated pregnancy at term. [ispub.com]

  OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi, type vii, osteogenesis imperfecta, type iib, formerly;oi2b, formerly Related symptoms: Autosomal recessive inheritance Short stature Hearing impairment Scoliosis Failure to thrive SOURCES: GARD [mendelian.co]

  The dietician provides advice on the size and frequency of feeds to ensure that slow growth is not mistaken as a failure to thrive. [dovepress.com]

• Microdontia

  PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High pitched voice; Hydrocephalus; Microdontia [mousephenotype.org]

  The signs and symptoms of Cole Carpenter Syndrome may include: Coronal craniosynostosis High pitched voice Microdontia Orbital craniosynostosis Osteopenia Shallow orbits Vertebral compression fractures Very frequently present symptoms in 80-99% of the [dovemed.com]

  […] motion 0005692 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Coronal craniosynostosis 0004440 High pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia [rarediseases.info.nih.gov]

• Blue Sclera

  Last updated April 24, 2018 Approved by: Krish Tangella MD, MBA, FCAP Cole-Carpenter syndrome is an extremely rare form of bone dysplasia, characterized by bone fragility associated with multiple fractures, bone deformities and blue sclera. [dovemed.com]

  In addition, these patients also had proptosis, blue sclerae, hydrocephalus, and a distinct facial gestalt. They were reported to be of normal intelligence. [ncbi.nlm.nih.gov]

  sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). [orpha.net]

• Fracture

  Fractures should be appropriately treated. [disorders.eyes.arizona.edu]

  Clinical aspects These patients appear normal at birth, but multiple fractures of the long bones are noted soon thereafter, followed by extensive demineralization with recurrent diaphyseal fractures of the weight-bearing bones already before the first [accessanesthesiology.mhmedical.com]

  Scoliosis; Shallow orbits; Short stature; Vertebral compression fractures Associated Genes P4HB (Withdrawn symbols: DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PO4DB, PO4HB, PROHB ) Mouse Orthologs P4hb (Withdrawn symbols: Thbp ) Source OMIM:112240 (names [mousephenotype.org]

• Osteopenia

  A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 [ncbi.nlm.nih.gov]

  […] developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia [mousephenotype.org]

  This indicated that the patient had experienced osteopenia and bone fragility. In this way, it is possible that the patient will experience a bone fracture in the future if serious attention is not paid. [journals.lww.com]

  A skeletal survey showed generalised osteopenia with shortened and bowed long bones and moderate metaphyseal irregularity. The ribs were short and flared, with a single fracture noted. Skull X-ray showed multiple wormian bones. [nature.com]

• Osteoporosis

  The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here. [humangenetik.uk-koeln.de]

  The triad of bilateral neck femur fractures, active rickets and osteoporosis are extremely rare. [ispub.com]

  = Osteoporosis XL Osteoporosis = X-linked Osteoporosis with Fractures OI XL = X-linked Osteogenesis Imperfecta Osteopaenia = Osteopaenia Skeletal dysplasia = Skeletal dysplasia OI I = Osteogenesis Imperfecta Type I OI IA = Osteogenesis Imperfecta Type [oi.gene.le.ac.uk]

  Plotkin H, Lutz R: Osteoporosis in pediatrics. In: Osteoporosis: Basic and Clinical Aspects. Edited by: Deng HW, Liu Y. 2004, Omaha: World Scientific Publishing 12. [bmcpediatr.biomedcentral.com]

• Bowing of The Long Bones

  bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia [orpha.net]

  Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long [rareguru.com]

  […] irregularities and bowing of the long bones) and blue sclera Additionally, the association of growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia [dovemed.com]

• Short Arm

  […] type has been described with a mutation in the cartilage associated protein (CRTAP) located on the short arm of chromosome 3 (3p22.3).[4] Clinically these forms are very similar and are best differentiated by gene sequencing. [en.wikipedia.org]

  The RAB23 gene, located on the short arm of chromosome 6 (6p11), encodes a protein involved in the process of movement of vesicles. This movement is important to transport molecules necessary for signaling during development. [ivami.com]

  Three of these genes, one located on the short arm of chromosome 8 (8p11), one on the long arm of chromosome 10 (10q26), and another on the short arm of chromosome 4 (4p16), are related to fibroblast growth factor receptors (FGFRs), which are molecules [encyclopedia.com]

  The genetic defect has been mapped to the short arm of chromosome 3 by linkage studies [58], where there are no genes that codify for type I pro collagen. [bmcpediatr.biomedcentral.com]

• Frontal Bossing

  bossing, midface hypoplasia, and micrognathia ). [malacards.org]

  A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 [ncbi.nlm.nih.gov]

  BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal [mousephenotype.org]

  bossing, midface hypoplasia, and micrognathia). [orpha.net]

• Communicating Hydrocephalus

  Human genes for Cole-Carpenter syndrome Cole-Carpenter syndrome [DOID:0060438] An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance [diseases.jensenlab.org]

  Patients must be followed for the development of communicating hydrocephalus. Long bone fractures require prompt treatment. [disorders.eyes.arizona.edu]

  Name Cole-Carpenter Syndrome 1 Synonyms BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus [mousephenotype.org]

  P4HB P4HB 1 1 Johan den Dunnen 00154404 25683117-Pat1 PubMed: Rauch 2015, PubMed: Cole 1987 2-generation family, 1 affected, unaffected parents M no Canada - - 0 - - CLCRP see papers; ..., craniosynostosis, Wormian bones, communicating hydrocephalus, [databases.lovd.nl]

• Global Developmental Delay

  Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Generalized hypotonia Microcephaly SOURCES: MONDO OMIM UMLS More info about CRANIOSYNOSTOSIS 6; CRS6 Low match ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8 Autosomal [mendelian.co]

  developmental delay 0001263 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Coronal craniosynostosis 0004440 High [rarediseases.info.nih.gov]

• Average Intelligence

  A person may also show below-average height and sub-average intelligence. Also called acrocephalopolysyndactyly. First described by British physician George Alfred Carpenter (1859-1910). [psychologydictionary.org]

Because of the involvement of two endocrine glands, workup was done to rule out autoimmune polyglandular syndrome. This helped in the diagnosis of late onset autoimmune diabetes of adults which is otherwise known as type 1.5 diabetes. [ijdvl.com]

Skip to content Home About Us Team Log In News Videos Treatments Clinical Trials Access Programs Diseases Events Networks All News People Treatment Research Finance All Access Programs Main Menu Subscribe for Free Newsletter Email * Type * * Required [checkorphan.org]

Treatment Treatment Options: Physical activity should be restricted to noncontact sports and where the cranium has ossification defects a helmet should be worn. Fractures should be appropriately treated. [disorders.eyes.arizona.edu]

OI is one such rare genetic condition where treatment is available in the form of bisphosphonates, which has a huge impact on quality of life. [books.google.com]

(Outcomes/Resolutions) The prognosis of Cole Carpenter Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

Prognosis - Cole Carpenter syndrome Not supplied. Treatment - Cole Carpenter syndrome Not supplied. Resources - Cole Carpenter syndrome Not supplied. [checkorphan.org]

Diagnosis and Prognosis: The diagnosis often requires a team approach with medical geneticists, neurosurgeons, pediatricians and ophthalmologists contributing. The prognosis is highly variable depending on the severity of the malformations. [disorders.eyes.arizona.edu]

The prognosis for a person affected by Carpenter Syndrome varies. Symptoms, and their severity, in individuals with this rare genetic disorder can vary greatly. [medium.com]

Given the possible antenatal presentation and prognosis associated with OI, it is important to make this diagnosis early and be able to distinguish this from other lethal skeletal dysplasias. [books.google.com]

However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. [books.google.com]

The etiology of mental retardation in this syndrome has not been explored. [pedneur.com]

The etiology of backwardness during this syndrome has not been explored. [journalijar.com]

One of the proposed biomechanical etiologies for MTSS is that muscle or fascia exerts excessive traction or tensile forces on the medial border of the tibia. [podiatrytoday.com]

Handbook of Epidemiology Epidemiology in Developing Countries. 2005. pp. 1545–1589. 12. Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, et al. [journals.plos.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

The epidemiology, genetics, and management are discussed separately. (See "Down syndrome: Overview of prenatal screening" and "Congenital cytogenetic abnormalities", section on 'Trisomy 21 (Down syndrome)' and "Down syndrome: Management" .) [uptodate.com]

Introduction Causes and Symptoms of Carpenter Syndrome The RAB23 Gene The MEFG8 Gene Epidemiology of Carpenter Syndrome Diagnosis and Treatment of Carpenter Syndrome References Carpenter syndrome is a rare autosomal recessive disorder characterized by [news-medical.net]

Acrocephalopolysyndactyly type 4 Overview Carpenter syndrome [1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.[2] Historical Perspective It was first characterized in 1909.[3] Pathophysiology [wikidoc.org]

Clinical research group focuses on treatment of childhood bone fragility and rare bone diseases; basic science group on early life events and skeletal development, as well as pathophysiology of childhood bone diseases. [sheffield.ac.uk]

Pathology and pathophysiology The normal synthesis of type I collagen begins with the transcription of genes named COL1A1 and COL1A2, which encode procollagen peptide chains called proa1 and proa2. [orthopaedicsone.com]

This has helped researchers and clinicians develop a better understanding of the pathophysiology of both MTSS and MTSF. [podiatrytoday.com]

Spranger and Langer provided a further review of 29 patients in 1970. [2] In 1969, Fraser noted the particular association of SED with myopia, retinal detachment, and deafness. [3] In 1939, Jacobsen recognized SED tarda in a report of 20 patients. [4] Pathophysiology [emedicine.medscape.com]

Prevention - Cole Carpenter syndrome Not supplied. Diagnosis - Cole Carpenter syndrome Not supplied. Prognosis - Cole Carpenter syndrome Not supplied. Treatment - Cole Carpenter syndrome Not supplied. Resources - Cole Carpenter syndrome Not supplied. [checkorphan.org]

Prevention How can I reduce the risk of Carpenter syndrome? There’s no way to prevent the genetic mutation or avoid passing it to future generations unless a carrier couple were to undergo preimplantation genetic testing. [my.clevelandclinic.org]

Despite its rarity, early diagnosis is important to prevent morbidity and optimize each patient’s long-term social and occupational function and to maximize quality of life. [orthopaedicsone.com]

In our patient after correction of adrenal insufficiency, the underlying type I diabetes mellitus was unmasked.[8] The diagnosis of late-onset autoimmune diabetes of adult was of great importance in starting her on insulin and preventing her from acute [ijdvl.com]