Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.



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

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0002744 Bilateral cleft lip and palate Very frequent (99-80%)
HP:0005469 Flat occiput Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004383 Hypoplastic left heart Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001679 Abnormal aortic morphology Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0010297 Bifid tongue Occasional (29-5%)
HP:0011304 Broad thumb 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