Campomelia, Cumming type

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



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000003 Multicystic kidney dysplasia Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000476 Cystic hygroma Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001522 Death in infancy Very frequent (99-80%)
HP:0001562 Oligohydramnios Very frequent (99-80%)
HP:0001732 Abnormality of the pancreas Very frequent (99-80%)
HP:0001737 Pancreatic cysts Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0005562 Multiple renal cysts Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0007495 Prematurely aged appearance Very frequent (99-80%)
HP:0100760 Clubbing of toes Very frequent (99-80%)
HP:0000765 Abnormality of the thorax Frequent (79-30%)
HP:0001789 Hydrops fetalis Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002863 Myelodysplasia Frequent (79-30%)
HP:0010781 Skin dimple Frequent (79-30%)
HP:0100569 Abnormally ossified vertebrae Frequent (79-30%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0001004 Lymphedema Occasional (29-5%)
HP:0002242 Abnormal intestine morphology Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0008056 Aplasia/Hypoplasia affecting the eye Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID