Cardiocranial syndrome, Pfeiffer type

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).



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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: 34

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0004442 Sagittal craniosynostosis Very frequent (99-80%)
HP:0012478 Temporomandibular joint ankylosis Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000054 Micropenis Frequent (79-30%)
HP:0000193 Bifid uvula Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000289 Broad philtrum Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000473 Torticollis Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001238 Slender finger Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001627 Abnormal heart morphology Frequent (79-30%)
HP:0002705 High, narrow palate Frequent (79-30%)
HP:0002778 Abnormal trachea morphology Frequent (79-30%)
HP:0002876 Episodic tachypnea Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006191 Deep palmar crease Frequent (79-30%)
HP:0008070 Sparse hair Frequent (79-30%)
HP:0008112 Plantar flexion contractures Frequent (79-30%)
HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger Frequent (79-30%)
HP:0010487 Small hypothenar eminence Frequent (79-30%)
HP:0010621 Cutaneous syndactyly of toes Frequent (79-30%)
HP:0010721 Abnormal hair whorl Frequent (79-30%)
HP:0011220 Prominent forehead 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