MCID: CRD019
MIFTS: 27

Cardiocranial Syndrome malady

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

Summaries for Cardiocranial Syndrome

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46OMIM, 32MalaCards
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MalaCards: Cardiocranial Syndrome, also known as cardiocranial syndrome, pfeiffer type, is related to crouzon syndrome, and has symptoms including laryngomalacia, autosomal dominant inheritance and choanal atresia. An important gene associated with Cardiocranial Syndrome is FGFR2 (fibroblast growth factor receptor 2). Affiliated tissues include heart, kidney and testes.

Description from OMIM:46 218450

Aliases & Classifications for Cardiocranial Syndrome

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Sources:
42NIH Rare Diseases, 60UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 60
cardiocranial syndrome, pfeiffer type 48 46
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 42
sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis 48
craniosynostosis - congenital heart disease - intellectual deficit 48
pfeiffer-type cardiocranial syndrome 42
pfeiffer singer zschiesche syndrome 42
pfeiffer-singer-zschiesche syndrome 48
pfeiffer cardiocranial syndrome 42
pfeiffer syndrome type 2 48
pfeiffer syndrome 2 42


External Ids:

OMIM46 218450
ICD10 via Orphanet26 Q87.8, Q87.0

Related Diseases for Cardiocranial Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Cardiocranial Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

218450

Clinical synopsis from OMIM:

218450

Symptoms:

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

Drugs & Therapeutics for Cardiocranial Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Cardiocranial Syndrome:

32
Heart, Kidney, Testes, Lung, Bone, Eye

Animal Models for Cardiocranial Syndrome or affiliated genes

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Publications for Cardiocranial Syndrome

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Genetic Variations for Cardiocranial Syndrome

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Expression for genes affiliated with Cardiocranial Syndrome

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet