Campomelia Cumming type
Alternate Names[edit | edit source]
Cervical lymphocele with bowed long bones; Cumming syndrome; Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys
Definition[edit | edit source]
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Epidemiology[edit | edit source]
The syndrome has been reported in eight infants from four different families.
Symptoms[edit | edit source]
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 , lung hypoplastia, short bowel. All newborns reported so far were either stillborn or died shortly after birth. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormality of the ribs(Rib abnormalities)
- Bowing of the long bones(Bowed long bones)
- Brachydactyly(Short fingers or toes)
- Cleft palate(Cleft roof of mouth)
- Clubbing of toes
- Cystic hygroma
- Death in infancy(Infantile death)
- Dolichocephaly(Long, narrow head)
- Micromelia(Smaller or shorter than typical limbs)
- Multicystic kidney dysplasia
- Multiple renal cysts(Multiple kidney cysts)
- Oligohydramnios(Low levels of amniotic fluid)
- Pancreatic cysts
- Prematurely aged appearance(Precociously senile appearance)
- Skeletal dysplasia
30%-79% of people have these symptoms
- Abnormally ossified vertebrae(Abnormal bone maturation of vertebra)
- Hepatomegaly(Enlarged liver)
- Hydrops fetalis
- Myelodysplasia
- Skin dimple
5%-29% of people have these symptoms
- Abnormal intestine morphology(Abnormality of the intestine)
- Abnormality of cardiovascular system morphology
- Aplasia/Hypoplasia affecting the eye(Absent/small eye)
- Coarse facial features(Coarse facial appearance)
- Lymphedema(Swelling caused by excess lymph fluid under skin)
NIH genetic and rare disease info[edit source]
Campomelia Cumming type is a rare disease.
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