Campomelia Cumming type
Don’t fight Campomelia Cumming type alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Campomelia Cumming type and get the support you need.
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
Connect with other users with Campomelia Cumming type on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
