MCID: CRD019
MIFTS: 30

Cardiocranial Syndrome malady

Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Cardiovascular diseases, Mental diseases categories

Summaries for Cardiocranial Syndrome

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48OMIM, 34MalaCards
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MalaCards: Cardiocranial Syndrome, also known as cardiocranial syndrome, pfeiffer type, is related to crouzon syndrome, and has symptoms including thumb hypoplasia/aplasia/absence, polyhydramnios and vesicorenal/vesicoureteral reflux. An important gene associated with Cardiocranial Syndrome is FGFR2 (fibroblast growth factor receptor 2). Affiliated tissues include heart, testes and kidney.

Description from OMIM:48 218450

Aliases & Classifications for Cardiocranial Syndrome

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Sources:
44NIH Rare Diseases, 63UMLS, 50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
cardiocranial syndrome, pfeiffer type:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
pfeiffer syndrome type 2:
Inheritance: Autosomal dominant


Aliases & Descriptions:

cardiocranial syndrome 44 63
cardiocranial syndrome, pfeiffer type 50 48
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 44
sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis 50
craniosynostosis - congenital heart disease - intellectual disability 50
pfeiffer-type cardiocranial syndrome 44
pfeiffer singer zschiesche syndrome 44
pfeiffer-singer-zschiesche syndrome 50
pfeiffer cardiocranial syndrome 44
pfeiffer syndrome type 2 50
pfeiffer syndrome 2 44


External Ids:

OMIM48 218450
ICD10 via Orphanet27 Q87.8, Q87.0

Related Diseases for Cardiocranial Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Cardiocranial Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome10.2

Symptoms for Cardiocranial Syndrome

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

218450

Clinical features from OMIM:

218450

Symptoms:

50 (show all 56)
  • thumb hypoplasia/aplasia/absence
  • polyhydramnios
  • vesicorenal/vesicoureteral reflux
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • ventricular septal defect/interventricular communication
  • tetralogy of fallot/trilogy of fallot
  • choanal atresia
  • micropenis/small penis/agenesis
  • external ear anomalies
  • agenesis/hypoplasia/aplasia of kidneys
  • atrial septal defect/interauricular communication
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • insterstitial/subtelomeric microdeletion/deletion
  • craniostenosis/craniosynostosis/sutural synostosis
  • intestinal/gut/bowel malrotation
  • exaggerated cupid bows
  • cloverleaf skull
  • external auditory canal atresia/stenosis/agenesis
  • camptodactyly of fingers
  • limited opening of the mouth
  • syndactyly of toes
  • tracheomalacia/tracheobronchomalacia
  • short big toe
  • proptosis/exophthalmos
  • arnold-chiari anomaly
  • high forehead
  • short foot/brachydactyly of toes
  • dolichocephaly/scaphocephaly
  • early death/lethality
  • stenosis of aqueduc of sylvius
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • ptosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal recessive inheritance
  • syndactyly of fingers/interdigital palm
  • low set ears/posteriorly rotated ears
  • hypertelorism
  • depressed nasal bridge
  • cranial hypertension
  • short hand/brachydactyly
  • congenital cardiac anomaly/malformation/cardiopathy
  • ectopic/horseshoe/fused kidneys
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • mid-facial hypoplasia/short/small midface
  • laryngomalacia
  • visual loss/blindness/amblyopia
  • short stature/dwarfism/nanism
  • broad/bifid big toe
  • broad/bifid thumb
  • restricted joint mobility/joint stiffness/ankylosis
  • short/small nose

Drugs & Therapeutics for Cardiocranial Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cardiocranial Syndrome

Drug clinical trials:

Search ClinicalTrials for Cardiocranial Syndrome

Search NIH Clinical Center for Cardiocranial Syndrome

Search CenterWatch for Cardiocranial Syndrome

Genetic Tests for Cardiocranial Syndrome

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Anatomical Context for Cardiocranial Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Cardiocranial Syndrome:

34
Heart, Testes, Kidney, Eye, Lung, Bone

Animal Models for Cardiocranial Syndrome or affiliated genes

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Publications for Cardiocranial Syndrome

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Sources:
53PubMed
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Articles related to Cardiocranial Syndrome:

idTitleAuthorsYear
1
Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q. (16531733)
2006
2
Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder? (15578579)
2005
3
Intrafamilial variability of Pfeiffer-type cardiocranial syndrome. (9415478)
1997
4
Pfeiffer type cardiocranial syndrome: a third case report. (8592338)
1995
5
Third case of Pfeiffer-type cardiocranial syndrome. (2624274)
1989

Variations for Cardiocranial Syndrome

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Expression for genes affiliated with Cardiocranial Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiocranial Syndrome

Search GEO for disease gene expression data for Cardiocranial Syndrome.

Pathways for genes affiliated with Cardiocranial Syndrome

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Compounds for genes affiliated with Cardiocranial Syndrome

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GO Terms for genes affiliated with Cardiocranial Syndrome

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Products for genes affiliated with Cardiocranial Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiocranial Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet