MCID: CRN268
MIFTS: 25

Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis

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

Aliases & Classifications for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

MalaCards integrated aliases for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis:

Name: Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 56 52
Sagittal Craniostenosis with Congenital Heart Disease, Mental Deficiency and Mandibular Ankylosis 52 58
Craniosynostosis-Congenital Heart Disease-Intellectual Disability Syndrome 52 58
Cardiocranial Syndrome, Pfeiffer Type 52 58
Pfeiffer-Singer-Zschiesche Syndrome 52 58
Pfeiffer Cardiocranial Syndrome 56 52
Pfeiffer-Type Cardiocranial Syndrome 52
Pfeiffer Singer Zschiesche Syndrome 52
Cardiocranial Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
cardiocranial syndrome, pfeiffer type
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2872 Definition Pfeiffer-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 description Genital 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. Etiology The 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 treatment Management depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered. Visit the Orphanet disease page for more resources.

MalaCards based summary : Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis, also known as sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis, is related to hypertelorism and synostosis. Affiliated tissues include heart, bone and trachea, and related phenotypes are global developmental delay and micrognathia

More information from OMIM: 218450

Related Diseases for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Diseases related to Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.5
2 synostosis 10.5
3 craniosynostosis 10.5
4 cryptorchidism, unilateral or bilateral 10.4
5 ankylosis 10.4
6 chromosomal triplication 10.4

Graphical network of the top 20 diseases related to Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis:



Diseases related to Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis

Symptoms & Phenotypes for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Human phenotypes related to Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 temporomandibular joint ankylosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012478
5 sagittal craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004442
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
9 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
13 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
14 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
15 broad philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000289
16 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
17 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
18 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
19 abnormal hair whorl 58 31 frequent (33%) Frequent (79-30%) HP:0010721
20 episodic tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002876
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
23 slender finger 58 31 frequent (33%) Frequent (79-30%) HP:0001238
24 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
25 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
26 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
27 deep palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0006191
28 abnormal trachea morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002778
29 small hypothenar eminence 58 31 frequent (33%) Frequent (79-30%) HP:0010487
30 plantar flexion contractures 58 31 frequent (33%) Frequent (79-30%) HP:0008112
31 contracture of the proximal interphalangeal joint of the 2nd finger 58 31 frequent (33%) Frequent (79-30%) HP:0009540
32 cutaneous syndactyly of toes 58 31 frequent (33%) Frequent (79-30%) HP:0010621
33 growth delay 58 31 Very frequent (99-80%) HP:0001510
34 low-set ears 58 Very frequent (99-80%)
35 trismus 31 HP:0000211
36 abnormality of cardiovascular system morphology 31 HP:0030680
37 abnormal tracheobronchial morphology 31 HP:0005607
38 microphallus 31 HP:0030260

Symptoms via clinical synopsis from OMIM:

56
G U:
cryptorchidism
microphallus

Neuro:
mental retardation

Growth:
retardation

H E E N T:
micrognathia
craniosynostosis, sagittal
limited mouth opening

Cardiac:
congenital heart defects

Respiratory:
tracheobronchial anomalies

Clinical features from OMIM:

218450

Drugs & Therapeutics for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Search Clinical Trials , NIH Clinical Center for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis

Genetic Tests for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Anatomical Context for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

MalaCards organs/tissues related to Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis:

40
Heart, Bone, Trachea

Publications for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Articles related to Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis:

# Title Authors PMID Year
1
Intrafamilial variability of Pfeiffer-type cardiocranial syndrome. 56
9415478 1997
2
Pfeiffer type cardiocranial syndrome: a third case report. 56
8592338 1995
3
Third case of Pfeiffer-type cardiocranial syndrome. 56
2624274 1989
4
Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs--a "new" syndrome? 56
3582410 1987
5
Craniosynostosis update 1987. 61
3144990 1988

Variations for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Expression for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Search GEO for disease gene expression data for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis.

Pathways for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

GO Terms for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

Sources for Craniostenosis, Sagittal, with Congenital Heart Disease, Mental...

3 CDC
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11 DGIdb
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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