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Cole-Carpenter Syndrome


Presentation

  • 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]
  • 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]
  • Acronym CLCRP1 Synonyms Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes[uniprot.org]
  • An important gene associated with Cole-Carpenter Syndrome is P4HB (Prolyl 4-Hydroxylase Subunit Beta), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and MHC class II antigen presentation .[malacards.org]
  • […] fragility-craniosynostosis-proptosis-hydrocephalus syndrome Prevalence: Inheritance: Not applicable or Autosomal dominant or Autosomal recessive Age of onset: Neonatal ICD-10: Q78.0 OMIM: 112240 616294 UMLS: C1862178 MeSH: C535963 GARD: 1425 MedDRA: - The documents contained in this web site are presented[orpha.net]
High Pitched Voice
  • 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]
  • pitched voice Severe hydrops fetalis Epiphyseal dysplasia Nephrocalcinosis Abnormality of the voice Short long bone Multiple suture craniosynostosis Growth hormone deficiency Central hypotonia Hydrops fetalis Hyperthyroidism Hydrocephalus Hypercalcemia[mendelian.co]
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
  • […] 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]
  • Adrenal hypoplasia Midface retrusion Edema Brachydactyly Congenital adrenal hypoplasia Skeletal dysplasia Metaphyseal cupping Delayed eruption of teeth Bruising susceptibility Bowing of the long bones Primary adrenal insufficiency Abnormality of the ribs Microdontia[mendelian.co]
Receding Chin
  • A receding chin has been noted and the hard palate is highly vaulted. The midface is flat. Genetics This disorder results from compound heterozygous mutations in the SEC24D gene (4q26). Only a few patients have been reported.[disorders.eyes.arizona.edu]
Eruptions
  • […] of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Frontal bossing 0002007 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Midface[rarediseases.info.nih.gov]
  • Dysosteosclerosis – disproportional short stature, deafness, blindness, delayed closure anterior fontanelle, frontal bossing, delayed tooth eruption, osteosclerosis, platyspondyly.[clinicaladvisor.com]
Blue Sclera
  • 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).Visit the Orphanet disease page for more resources.[malacards.org]
  • sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).[orpha.net]
  • In addition, these patients also had proptosis, blue sclerae, hydrocephalus and a distinct facial gestalt. They were reported to be of normal intelligence.[bone-abstracts.org]
  • sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia ).[rarediseases.info.nih.gov]
Fracture
  • Fractures should be appropriately treated.[disorders.eyes.arizona.edu]
  • Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Scoliosis Abnormal curving of the spine 0002650 Turricephaly Tall shaped skull Tower skull shape [ more[rarediseases.info.nih.gov]
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]
  • 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]
  • Some patients have osteopenia of the long bones that fracture easily. The facial features are said to be distinctive with midface hypoplasia, low-set ears, micrognathia, and, of course, prominent globes.[disorders.eyes.arizona.edu]
  • […] through HPO Autosomal dominant inheritance 0000006 Coronal craniosynostosis 0004440 High pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia[rarediseases.info.nih.gov]
Osteoporosis
  • Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis.[books.google.com]
  • . [1] Osteoporosis that affects young and otherwise healthy individuals is operationally defined as “idiopathic” osteoporosis (IOP).[journals.lww.com]
  • 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]
  • View Article Google Scholar Plotkin H, Lutz R: Osteoporosis in pediatrics. In: Osteoporosis: Basic and Clinical Aspects.[bmcpediatr.biomedcentral.com]
Bowing of The Long Bones
  • […] 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, and micrognathia).Visit the Orphanet disease page for[malacards.org]
  • […] 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, and micrognathia).[orpha.net]
  • […] of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Crumpled long bones 0006367 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption[rarediseases.info.nih.gov]
Recurrent Fractures
  • fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Scoliosis Abnormal curving of the spine 0002650 Turricephaly Tall shaped skull Tower skull shape[rarediseases.info.nih.gov]
  • Clinical Manifestations [The classic manifestations of OI include multiple and recurrent fractures, blue sclerae, dental abnormalties, and adult-onset hearing losses.[orthopaedicsone.com]
Frontal Bossing
  • We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia[ncbi.nlm.nih.gov]
  • Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.[uniprot.org]
  • bossing, midface hypoplasia, and micrognathia).Visit the Orphanet disease page for more resources.[malacards.org]
  • bossing, midface hypoplasia, and micrognathia).[orpha.net]
Communicating Hydrocephalus
  • Patients must be followed for the development of communicating hydrocephalus. Long bone fractures require prompt treatment.[disorders.eyes.arizona.edu]
  • In addition to severe bone fragility, the main features of the syndrome are craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.[iofbonehealth.org]
  • Affiliated tissues include bone and eye , and related phenotypes are turricephaly and micrognathia Disease Ontology : 12 An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth[malacards.org]
  • hydrocephalus 0001334 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Kyphosis Hunched back Round back [ more ] 0002808 Muscular hypotonia Low or weak muscle tone 0001252 Recurrent fractures Increased[rarediseases.info.nih.gov]

Treatment

  • Treatment Treatment Options: A frontal craniectomy may be necessary during early childhood to relieve the proptosis particularly when blinking is impaired. Patients must be followed for the development of communicating hydrocephalus.[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]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Differential diagnosis [ edit ] Pfeiffer syndrome Osteogenesis imperfecta Osteoglophonic dwarfism Treatment [ edit ] There is no specific treatment for this condition currently known and management of its various features is the norm.[en.wikipedia.org]

Prognosis

  • Prognosis - Cole Carpenter syndrome Not supplied. Treatment - Cole Carpenter syndrome Not supplied. Resources - Cole Carpenter syndrome Not supplied.[checkorphan.org]
  • 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]
  • Prognosis: The prognosis often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy.[gwumc.edu]
  • In spite of their grim prognosis, she breathes on her own and is making slow progress in her physical therapy every single day.[gofundme.com]
  • What is the prognosis? Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties.[celebritydiagnosis.com]

Etiology

  • 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]
  • 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]
  • The sequence of diverse pathological events recorded within each family would be almost incomprehensible without a proper etiological understanding of the natural history of each child/family deformity that led to their occurrences.[journals.lww.com]
  • Ongoing controversies regarding etiology, diagnosis, treatment N/A Copyright 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.[clinicaladvisor.com]
  • A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.[scindeks.ceon.rs]

Epidemiology

  • 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 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]
  • EPIDEMIOLOGY AND PREVALENCE Osteogenesis Imperfecta occurs in approximately 1 in 20,000 live births. More than 200 gene mutations have been associated with the OI phenotype.[gwumc.edu]
  • Epidemiology of the sick building syndrome. J Allergy Clin Immunol 94:277-288. Bascom, R. 1991. The upper respiratory tract: mucous membrane irritation. Environ Health Persp 95:39-44.[ilocis.org]
  • Relevant External Links for SEC24D Genetic Association Database (GAD) SEC24D Human Genome Epidemiology (HuGE) Navigator SEC24D Atlas of Genetics and Cytogenetics in Oncology and Haematology: SEC24D No data available for Genatlas for SEC24D Gene Selective[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • 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

  • 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]
  • 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]
  • His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopedic treatment of OI.[en.wikipedia.org]
  • Additionally, his lab is interested in developing prophylactic drugs called “microbicides” that can prevent or limit sexually transmitted HIV.[med.ucf.edu]
  • Something as simple as getting a medical mattress to prevent bed sores can takes months of emails and phone calls to accomplish.[gofundme.com]

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