Campomelia, Cumming Type

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OMIM 58 211890 MESH via Orphanet 46 C537966 ICD10 via Orphanet 35 Q87.8 UMLS via Orphanet 75 C1859371

Orphanet 60 ORPHA1318 MedGen 43 C1859371 SNOMED-CT via HPO 70 105985007 109995007 128623006 188736006 204962002 234097001 237836003 240190009 249808002 253883006 258211005 276508000 301854006 30213001 31258000 397932003 399882002 40225001 423984004 43476002 53148007 59566000 63567004 72239002 72925005 74370006 80515008 82525005 85919009 87979003 more UMLS 74 C1859371

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1318Disease definitionCampomelia, 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 visceral heterotaxy and campomelic dysplasia. Affiliated tissues include kidney, bone and liver, and related phenotypes are skeletal dysplasia and bowing of the long bones

Description from OMIM: 211890

Clinical features from OMIM:

211890

Search Clinical Trials , NIH Clinical Center for Campomelia, Cumming Type

Search GEO for disease gene expression data for Campomelia, Cumming Type.