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Campomelia, Cumming type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q87.8
  • C1859371
  • C537966
MedDRA -


Disease definition

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


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.

Expert reviewer(s)

  • Pr R.C. [Raoul] HENNEKAM

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