Cole Carpenter syndrome

Title

Other Names:

Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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 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 more resources.

Last updated: 12/1/2014

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal form of the vertebral bodies		0003312
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Abnormality of the ribs	Rib abnormalities	0000772
Abnormality of the voice	Voice abnormality	0001608
Blue sclerae	Whites of eyes are a bluish-gray color	0000592
Bowing 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 [ more ]	0000684
Frontal bossing		0002007
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Short stature	Decreased 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
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 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 ]	0000262
Wormian bones	Extra bones within cranial sutures	0002645
5%-29% of people have these symptoms
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Global 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 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 [ more ]	0000586
Vertebral compression fractures	Compression fracture	0002953

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2019

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cole Carpenter syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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