Campomelia Cumming type
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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| Hepatomegaly |
| Myelodysplasia |
| Abnormally ossified vertebrae |
| Hydrops fetalis |
| Skin dimple |
5%-29% of people have these symptoms.
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| Coarse facial features |
| Papilloma |
| Finger dactylitis |
| Abnormality of cardiovascular system morphology |
| Abnormal intestine morphology |
| Aplasia/Hypoplasia affecting the eye |
| Lymphedema |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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