Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.



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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: 41

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000054 Micropenis Very frequent (99-80%)
HP:0000089 Renal hypoplasia Very frequent (99-80%)
HP:0000104 Renal agenesis Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000262 Turricephaly Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0002000 Short columella Very frequent (99-80%)
HP:0002308 Arnold-Chiari malformation Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000239 Large fontanelles Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0001285 Spastic tetraparesis Frequent (79-30%)
HP:0001513 Obesity Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001601 Laryngomalacia Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0002059 Cerebral atrophy Frequent (79-30%)
HP:0007375 Abnormality of the septum pellucidum 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