MCID: CRD019
MIFTS: 13

Cardiocranial Syndrome

Categories: Rare diseases, Mental diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Cardiocranial Syndrome

MalaCards integrated aliases for Cardiocranial Syndrome:

Name: Cardiocranial Syndrome 49 69
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 49
Sagittal Craniostenosis with Congenital Heart Disease, Mental Deficiency and Mandibular Ankylosis 49
Craniosynostosis-Congenital Heart Disease-Intellectual Disability Syndrome 49
Cardiocranial Syndrome, Pfeiffer Type 49
Pfeiffer-Type Cardiocranial Syndrome 49
Pfeiffer Singer Zschiesche Syndrome 49
Pfeiffer-Singer-Zschiesche Syndrome 49
Pfeiffer Cardiocranial Syndrome 49

Classifications:



External Ids:

UMLS 69 C1857495

Summaries for Cardiocranial Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2872Disease definitionPfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).Clinical descriptionGenital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. Joint and palpebral abnormalities may also occur.EtiologyThe etiology remains unknown. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.Management and treatmentManagement depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered.Visit the Orphanet disease page for more resources. Last updated: 11/30/2006

MalaCards based summary : Cardiocranial Syndrome, also known as craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis, is related to craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis. Affiliated tissues include heart.

Related Diseases for Cardiocranial Syndrome

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

# Related Disease Score Top Affiliating Genes
1 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.5

Symptoms & Phenotypes for Cardiocranial Syndrome

Drugs & Therapeutics for Cardiocranial Syndrome

Search Clinical Trials , NIH Clinical Center for Cardiocranial Syndrome

Genetic Tests for Cardiocranial Syndrome

Anatomical Context for Cardiocranial Syndrome

MalaCards organs/tissues related to Cardiocranial Syndrome:

38
Heart

Publications for Cardiocranial Syndrome

Articles related to Cardiocranial Syndrome:

# Title Authors Year
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

Variations for Cardiocranial Syndrome

Expression for Cardiocranial Syndrome

Search GEO for disease gene expression data for Cardiocranial Syndrome.

Pathways for Cardiocranial Syndrome

GO Terms for Cardiocranial Syndrome

Sources for Cardiocranial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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