Cloverleaf skull-multiple congenital anomalies syndrome

This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital 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:0000316 Hypertelorism Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000889 Abnormality of the clavicle Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002676 Cloverleaf skull Very frequent (99-80%)
HP:0002691 Platybasia Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0004331 Decreased skull ossification Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000239 Large fontanelles Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0001539 Omphalocele Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0009623 Proximal placement of thumb Frequent (79-30%)


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