[…] 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]

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]

• 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]

• 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]

• Dysplastic Ears

  ears, downslanting palpebral fissures, hypertelorism, short mid-face, shallow orbits with ocular proptosis, blue sclerae, severe midface hypoplasia, micrognathia, and dental anomalies (small teeth with hypoplastic enamel). [accessanesthesiology.mhmedical.com]

  ears, short or shallow philtrum, high arched or narrow palate, micrognathia). [mendelian.co]

• 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]

  Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis. [books.google.com]

  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]

• Cranial Asymmetry

  In addition, the cranial sutures often fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). [rarediseases.org]

• Communicating Hydrocephalus

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

  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]

  Facial abnormalities may include facial structural asymmetry, craniosynostosis of the coronal and frontal sutures with rapidly progressive, communicating hydrocephalus, enlarged fontanelle with widening of coronal, sagittal, and lambdoid sutures and multiple [accessanesthesiology.mhmedical.com]

  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]

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]

(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]

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]

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]

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]

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]

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]

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]

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]

Additionally, his lab is interested in developing prophylactic drugs called “microbicides” that can prevent or limit sexually transmitted HIV. [med.ucf.edu]

Some reports suggest that early surgical intervention may help to prevent intellectual disability in some instances. [rarediseases.org]