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Campomelia, Cumming type

ORPHA1318
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C1859371
MeSH
  • C537966
MedDRA -

Summary

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.

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 infants reported so far were either stillborn or died shortly after birth.

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 Raoul HENNEKAM

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