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Disease Profile

Campomelia Cumming type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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;

Summary

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

Orpha Number: 1318

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.

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.

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
Cleft roof of mouth
0000175
Clubbing of toes
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 dimple
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
Multiple small spleens
0001748
Short stature
Decreased body height
Small stature

[ more ]

0004322

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.