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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MalaCards based summary: Cardiocranial Syndrome, also known as cardiocranial syndrome, pfeiffer type, is related to pfeiffer syndrome and crouzon syndrome, and has symptoms including trismus, dolichocephaly and hypertelorism. 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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42NIH Rare Diseases, 61UMLS, 48Orphanet, 46OMIM, 27ICD10 via Orphanet
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Cardiocranial Syndrome, Aliases & Descriptions:

Name: Cardiocranial Syndrome 42 61
Cardiocranial Syndrome, Pfeiffer Type 48 46
Pfeiffer-Type Cardiocranial Syndrome 42 61
Pfeiffer Singer Zschiesche Syndrome 42 61
Pfeiffer Cardiocranial Syndrome 42 61
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 Disability 48
Pfeiffer-Singer-Zschiesche Syndrome 48
Pfeiffer Syndrome Type 2 48
Pfeiffer Syndrome 2 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 218450
ICD10 via Orphanet27 Q87.8, Q87.0

Related Diseases for Cardiocranial Syndrome

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

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

Symptoms for Cardiocranial Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (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
  • 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
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • 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
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • polyhydramnios
  • 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
  • ventricular septal defect/interventricular communication
  • agenesis/hypoplasia/aplasia of kidneys
  • insterstitial/subtelomeric microdeletion/deletion
  • 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 63)
id Description Frequency HPO Source Accession
1 trismus hallmark (90%) HP:0000211
2 dolichocephaly hallmark (90%) HP:0000268
3 hypertelorism hallmark (90%) HP:0000316
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 craniosynostosis hallmark (90%) HP:0001363
7 laryngomalacia hallmark (90%) HP:0001601
8 tracheomalacia hallmark (90%) HP:0002779
9 short stature hallmark (90%) HP:0004322
10 external ear malformation hallmark (90%) HP:0008572
11 cognitive impairment hallmark (90%) HP:0100543
12 malar flattening hallmark (90%) HP:0000272
13 hypertelorism hallmark (90%) HP:0000316
14 high forehead hallmark (90%) HP:0000348
15 proptosis hallmark (90%) HP:0000520
16 limitation of joint mobility hallmark (90%) HP:0001376
17 preaxial foot polydactyly hallmark (90%) HP:0001841
18 respiratory insufficiency hallmark (90%) HP:0002093
19 arnold-chiari malformation hallmark (90%) HP:0002308
20 cloverleaf skull hallmark (90%) HP:0002676
21 short nose hallmark (90%) HP:0003196
22 depressed nasal bridge hallmark (90%) HP:0005280
23 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
24 abnormality of thumb phalanx hallmark (90%) HP:0009602
25 short hallux hallmark (90%) HP:0010109
26 cryptorchidism typical (50%) HP:0000028
27 vesicoureteral reflux typical (50%) HP:0000076
28 ptosis typical (50%) HP:0000508
29 limitation of joint mobility typical (50%) HP:0001376
30 polyhydramnios typical (50%) HP:0001561
31 defect in the atrial septum typical (50%) HP:0001631
32 tetralogy of fallot typical (50%) HP:0001636
33 exaggerated cupid's bow typical (50%) HP:0002263
34 hypoplasia of penis typical (50%) HP:0008736
35 camptodactyly of finger typical (50%) HP:0100490
36 abnormal localization of kidney typical (50%) HP:0100542
37 low-set, posteriorly rotated ears typical (50%) HP:0000368
38 atresia of the external auditory canal typical (50%) HP:0000413
39 choanal atresia typical (50%) HP:0000453
40 brachydactyly syndrome typical (50%) HP:0001156
41 seizures typical (50%) HP:0001250
42 laryngomalacia typical (50%) HP:0001601
43 toe syndactyly typical (50%) HP:0001770
44 aqueductal stenosis typical (50%) HP:0002410
45 tracheomalacia typical (50%) HP:0002779
46 finger syndactyly typical (50%) HP:0006101
47 cognitive impairment typical (50%) HP:0100543
48 ventricular septal defect occasional (7.5%) HP:0001629
49 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
50 cleft palate occasional (7.5%) HP:0000175
51 visual impairment occasional (7.5%) HP:0000505
52 increased intracranial pressure occasional (7.5%) HP:0002516
53 intestinal malrotation occasional (7.5%) HP:0002566
54 urogenital fistula occasional (7.5%) HP:0100589
55 autosomal recessive inheritance HP:0000007
56 cryptorchidism HP:0000028
57 micropenis HP:0000054
58 micrognathia HP:0000347
59 intellectual disability HP:0001249
60 growth delay HP:0001510
61 malformation of the heart and great vessels HP:0002564
62 sagittal craniosynostosis HP:0004442
63 abnormality of the tracheobronchial system HP:0005607

Drugs & Therapeutics for Cardiocranial Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cardiocranial Syndrome

Search 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, Kidney, Testes, Eye, Bone, Lung

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)
Third case of Pfeiffer-type cardiocranial syndrome. (2624274)

Variations for Cardiocranial Syndrome

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Expression for genes affiliated with Cardiocranial Syndrome

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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
  • Proteins
  • Kits and Assays

Sources for Cardiocranial Syndrome

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet