Cardiocranial Syndrome malady

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

Aliases & Classifications for Cardiocranial Syndrome

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45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Cardiocranial Syndrome:

Name: Cardiocranial Syndrome 45 65
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 45
Sagittal Craniostenosis with Congenital Heart Disease, Mental Deficiency and Mandibular Ankylosis 51
Craniosynostosis - Congenital Heart Disease - Intellectual Disability 51
Cardiocranial Syndrome, Pfeiffer Type 51
Pfeiffer-Type Cardiocranial Syndrome 45
Pfeiffer Singer Zschiesche Syndrome 45
Pfeiffer-Singer-Zschiesche Syndrome 51
Pfeiffer Cardiocranial Syndrome 45
Pfeiffer Syndrome Type 2 51
Pfeiffer Syndrome 2 45


Characteristics (Orphanet epidemiological data):

sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
pfeiffer syndrome type 2:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal

External Ids:

Orphanet51 2872, 93259
ICD10 via Orphanet28 Q87.8, Q87.0

Summaries for Cardiocranial Syndrome

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MalaCards based summary: Cardiocranial Syndrome, also known as craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis, is related to pfeiffer syndrome and crouzon syndrome, and has symptoms including malar flattening, hypertelorism and high forehead. An important gene associated with Cardiocranial Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include heart, testes and kidney.

Related Diseases for Cardiocranial Syndrome

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Diseases related to Cardiocranial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome10.7
2crouzon syndrome10.3

Symptoms for Cardiocranial Syndrome

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

HPO human phenotypes related to Cardiocranial Syndrome:

(show all 30)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 high forehead hallmark (90%) HP:0000348
4 proptosis hallmark (90%) HP:0000520
5 limitation of joint mobility hallmark (90%) HP:0001376
6 preaxial foot polydactyly hallmark (90%) HP:0001841
7 respiratory insufficiency hallmark (90%) HP:0002093
8 arnold-chiari malformation hallmark (90%) HP:0002308
9 cloverleaf skull hallmark (90%) HP:0002676
10 short nose hallmark (90%) HP:0003196
11 depressed nasal bridge hallmark (90%) HP:0005280
12 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
13 abnormality of thumb phalanx hallmark (90%) HP:0009602
14 short hallux hallmark (90%) HP:0010109
15 low-set, posteriorly rotated ears typical (50%) HP:0000368
16 atresia of the external auditory canal typical (50%) HP:0000413
17 choanal atresia typical (50%) HP:0000453
18 brachydactyly syndrome typical (50%) HP:0001156
19 seizures typical (50%) HP:0001250
20 laryngomalacia typical (50%) HP:0001601
21 toe syndactyly typical (50%) HP:0001770
22 aqueductal stenosis typical (50%) HP:0002410
23 tracheomalacia typical (50%) HP:0002779
24 finger syndactyly typical (50%) HP:0006101
25 cognitive impairment typical (50%) HP:0100543
26 cleft palate occasional (7.5%) HP:0000175
27 visual impairment occasional (7.5%) HP:0000505
28 increased intracranial pressure occasional (7.5%) HP:0002516
29 intestinal malrotation occasional (7.5%) HP:0002566
30 urogenital fistula occasional (7.5%) HP:0100589

Drugs & Therapeutics for Cardiocranial Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cardiocranial Syndrome

Genetic Tests for Cardiocranial Syndrome

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Anatomical Context for Cardiocranial Syndrome

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MalaCards organs/tissues related to Cardiocranial Syndrome:

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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Articles related to Cardiocranial Syndrome:

Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q. (16531733)
Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder? (15578579)
Intrafamilial variability of Pfeiffer-type cardiocranial syndrome. (9415478)
Pfeiffer type cardiocranial syndrome: a third case report. (8592338)

Variations for Cardiocranial Syndrome

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Expression for genes affiliated with Cardiocranial Syndrome

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Search GEO for disease gene expression data for Cardiocranial Syndrome.

Pathways for genes affiliated with Cardiocranial Syndrome

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GO Terms for genes affiliated with Cardiocranial Syndrome

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Sources for Cardiocranial Syndrome

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet