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MCID: CMP075
MIFTS: 24
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Campomelia, Cumming Type
Categories:
Bone diseases, Cardiovascular diseases, Fetal diseases, Immune diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Campomelia, Cumming Type:
Characteristics:Orphanet epidemiological data:59
campomelia, cumming type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth; HPO:32
campomelia, cumming type:
Clinical modifier death in infancy Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Bone diseases Skin diseases Immune diseases
ICD10:
34
Orphanet: 59
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1318DefinitionCampomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.EpidemiologyThe syndrome has been reported in eight infants from four different families.Clinical descriptionSkeletal 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 counselingIn 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.
MalaCards based summary : Campomelia, Cumming Type, also known as cervical lymphocele with bowed long bones, is related to lymphocele and visceral heterotaxy. Affiliated tissues include kidney, bone and liver, and related phenotypes are skeletal dysplasia and bowing of the long bones
More information from OMIM:
211890
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Diseases related to Campomelia, Cumming Type via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Campomelia, Cumming Type:
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Human phenotypes related to Campomelia, Cumming Type:59 32 (show all 34)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:211890 |
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MalaCards organs/tissues related to Campomelia, Cumming Type:41
Kidney,
Bone,
Liver,
Pancreas,
Lung,
Skin,
Eye
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Articles related to Campomelia, Cumming Type:
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Search
GEO
for disease gene expression data for Campomelia, Cumming Type.
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