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]

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

• 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Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Vertebral compression fractures Associated Genes P4HB (Withdrawn symbols: [mousephenotype.org]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]

• 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]

• Small Teeth

  teeth with hypoplastic enamel). [accessanesthesiology.mhmedical.com]

• 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]

  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 IA OI IB Osteogenesis [oi.gene.le.ac.uk]

• 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) 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) may be noted (Source: [dovemed.com]

  […] 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]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 30%-79% of people have these symptoms Abnormality of dental enamel Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ] 0000682 Communicating hydrocephalus 0001334 [rarediseases.info.nih.gov]

• 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]

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

  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]

  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]

• 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]

  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]

  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]

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]

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]

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]

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]

Although her grandfather's brother exhibited ocular proptosis, his death prevented us from researching the relationship between that case and ours. [journals.lww.com]