Campomelia Cumming type

Title

Other Names:

Cervical lymphocele with bowed long bones; Cumming syndrome; Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys

Categories:

Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases; Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases See More

Summary Summary

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

Orpha Number: 1318

Disease definition

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

Epidemiology

The syndrome has been reported in eight infants from four different families.

Clinical description

Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia (see this term), lung hypoplastia, short bowel. All newborns reported so far were either stillborn or died shortly after birth.

Genetic counseling

In one of the affected families, three sibs with identical features born to first-cousin parents have been reported, suggestive of autosomal recessive mode of inheritance.

Visit the Orphanet disease page for more resources.

Last updated: 7/19/2009

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
Abnormality of the ribs	Rib abnormalities	0000772
Bowing of the long bones	Bowed long bones Bowing of long bones [ more ]	0006487
Brachydactyly	Short fingers or toes	0001156
Cleft palate		0000175
Clubbing of toes	Clubbing of feet	0100760
Cystic hygroma		0000476
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Micromelia	Smaller or shorter than typical limbs	0002983
Multicystic kidney dysplasia		0000003
Multiple renal cysts	Multiple kidney cysts	0005562
Oligohydramnios	Low levels of amniotic fluid	0001562
Pancreatic cysts		0001737
Prematurely aged appearance	Precociously senile appearance	0007495
Skeletal dysplasia		0002652
30%-79% of people have these symptoms
Abnormally ossified vertebrae	Abnormal bone maturation of vertebra	0100569
Hepatomegaly	Enlarged liver	0002240
Hydrops fetalis		0001789
Myelodysplasia		0002863
Skin dimples		0010781
5%-29% of people have these symptoms
Abnormal intestine morphology	Abnormality of the intestine	0002242
Abnormality of cardiovascular system morphology		0030680
Aplasia/Hypoplasia affecting the eye	Absent/small eye Absent/underdeveloped eye [ more ]	0008056
Coarse facial features	Coarse facial appearance	0000280
Lymphedema	Swelling caused by excess lymph fluid under skin	0001004
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Polycystic kidney dysplasia		0000113
Polycystic liver disease		0006557
Polysplenia		0001748
Short stature	Decreased body height Small stature [ more ]	0004322

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

Last updated: 12/1/2018

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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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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 Campomelia Cumming type. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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