MCID: CRD019
MIFTS: 24

Cardiocranial Syndrome malady

Neuronal, Eye, Bone, Fetal, Cardiovascular categories

Summaries for Cardiocranial Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Cardiocranial Syndrome, also known as cardiocranial syndrome, pfeiffer type, is related to fg syndrome and crouzon syndrome, and has symptoms including hypertelorism, hypertelorism and low set ears/posteriorly rotated ears. An important gene associated with Cardiocranial Syndrome is FGFR2 (fibroblast growth factor receptor 2). Affiliated tissues include heart.

Description from OMIM:47 218450

Aliases & Classifications for Cardiocranial Syndrome

Sources:
43NIH Rare Diseases, 61UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Bone, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
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 43 61
cardiocranial syndrome, pfeiffer type 49 47
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 43
sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis 49
craniosynostosis - congenital heart disease - intellectual deficit 49
pfeiffer-type cardiocranial syndrome 43
pfeiffer singer zschiesche syndrome 43
pfeiffer-singer-zschiesche syndrome 49
pfeiffer cardiocranial syndrome 43
pfeiffer syndrome type 2 49
pfeiffer syndrome 2 43


External Ids:

OMIM47 218450
ICD10 via Orphanet26 Q87.8, Q87.0

Related Diseases for Cardiocranial Syndrome

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
1fg syndrome10.4
2crouzon syndrome10.2
3n syndrome10.1

Clinical Features for Cardiocranial Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

218450

Clinical synopsis from OMIM:

218450

Symptoms:

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

Drugs & Therapeutics for Cardiocranial Syndrome

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Cardiocranial Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Cardiocranial Syndrome:

33
Heart

Animal Models for Cardiocranial Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cardiocranial Syndrome

Sources:
51PubMed
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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

Genetic Variations for Cardiocranial Syndrome

Expression for genes affiliated with Cardiocranial Syndrome

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

Compounds for genes affiliated with Cardiocranial Syndrome

GO Terms for genes affiliated with Cardiocranial Syndrome

Products for genes affiliated with Cardiocranial Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiocranial Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet