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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42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
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Aliases & Descriptions for Cardiocranial Syndrome:

Name: Cardiocranial Syndrome 42 61
Sagittal Craniostenosis with Congenital Heart Disease, Mental Deficiency and Mandibular Ankylosis 42 48
Craniosynostosis - Congenital Heart Disease - Intellectual Disability 42 48
Cardiocranial Syndrome, Pfeiffer Type 42 48
Pfeiffer-Singer-Zschiesche Syndrome 42 48
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 42
Pfeiffer-Type Cardiocranial Syndrome 42
Pfeiffer Singer Zschiesche Syndrome 42
Pfeiffer Cardiocranial Syndrome 42
Pfeiffer Syndrome Type 2 48
Pfeiffer Syndrome 2 42


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:

Orphanet48 2872, 93259
ICD10 via Orphanet26 Q87.8, Q87.0

Summaries for Cardiocranial Syndrome

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MalaCards based summary: Cardiocranial Syndrome, also known as sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis, 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.

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 syndrome10.2

Symptoms for Cardiocranial Syndrome

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 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
  • 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 62)
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 high forehead hallmark (90%) HP:0000348
14 proptosis hallmark (90%) HP:0000520
15 limitation of joint mobility hallmark (90%) HP:0001376
16 preaxial foot polydactyly hallmark (90%) HP:0001841
17 respiratory insufficiency hallmark (90%) HP:0002093
18 arnold-chiari malformation hallmark (90%) HP:0002308
19 cloverleaf skull hallmark (90%) HP:0002676
20 short nose hallmark (90%) HP:0003196
21 depressed nasal bridge hallmark (90%) HP:0005280
22 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
23 abnormality of thumb phalanx hallmark (90%) HP:0009602
24 short hallux hallmark (90%) HP:0010109
25 cryptorchidism typical (50%) HP:0000028
26 vesicoureteral reflux typical (50%) HP:0000076
27 ptosis typical (50%) HP:0000508
28 limitation of joint mobility typical (50%) HP:0001376
29 polyhydramnios typical (50%) HP:0001561
30 defect in the atrial septum typical (50%) HP:0001631
31 tetralogy of fallot typical (50%) HP:0001636
32 exaggerated cupid's bow typical (50%) HP:0002263
33 hypoplasia of penis typical (50%) HP:0008736
34 camptodactyly of finger typical (50%) HP:0100490
35 abnormal localization of kidney typical (50%) HP:0100542
36 low-set, posteriorly rotated ears typical (50%) HP:0000368
37 atresia of the external auditory canal typical (50%) HP:0000413
38 choanal atresia typical (50%) HP:0000453
39 brachydactyly syndrome typical (50%) HP:0001156
40 seizures typical (50%) HP:0001250
41 laryngomalacia typical (50%) HP:0001601
42 toe syndactyly typical (50%) HP:0001770
43 aqueductal stenosis typical (50%) HP:0002410
44 tracheomalacia typical (50%) HP:0002779
45 finger syndactyly typical (50%) HP:0006101
46 cognitive impairment typical (50%) HP:0100543
47 ventricular septal defect occasional (7.5%) HP:0001629
48 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
49 cleft palate occasional (7.5%) HP:0000175
50 visual impairment occasional (7.5%) HP:0000505
51 increased intracranial pressure occasional (7.5%) HP:0002516
52 intestinal malrotation occasional (7.5%) HP:0002566
53 urogenital fistula occasional (7.5%) HP:0100589
54 autosomal recessive inheritance HP:0000007
55 cryptorchidism HP:0000028
56 micropenis HP:0000054
57 micrognathia HP:0000347
58 intellectual disability HP:0001249
59 growth delay HP:0001510
60 malformation of the heart and great vessels HP:0002564
61 sagittal craniosynostosis HP:0004442
62 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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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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Sources for Cardiocranial Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet