CCMS
MCID: CRB154
MIFTS: 56

Cerebrocostomandibular Syndrome (CCMS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cerebrocostomandibular Syndrome

MalaCards integrated aliases for Cerebrocostomandibular Syndrome:

Name: Cerebrocostomandibular Syndrome 57 12 20 58 73 36 44 15 71
Cerebro-Costo-Mandibular Syndrome 12 20 73 29 6
Rib Gap Defects with Micrognathia 57 12 20 73
Ccms 57 12 20 73
Ccm Syndrome 12 20 73
Micrognathism 44

Characteristics:

Orphanet epidemiological data:

58
cerebrocostomandibular syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
forty percent of patients die in the first year
de novo mutation (in most patients)


HPO:

31
cerebrocostomandibular syndrome:
Onset and clinical course death in infancy
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cerebrocostomandibular Syndrome

KEGG : 36 Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate). Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS.

MalaCards based summary : Cerebrocostomandibular Syndrome, also known as cerebro-costo-mandibular syndrome, is related to cerebral cavernous malformation, familial and cavernous hemangioma. An important gene associated with Cerebrocostomandibular Syndrome is SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1), and among its related pathways/superpathways are Spliceosome and Cytoskeletal Signaling. The drugs Propranolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, tongue and bone, and related phenotypes are cleft palate and micrognathia

Disease Ontology : 12 A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has material basis in heterozygous mutation in SNRPB on 20p13.

GARD : 20 Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening. Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported. No specific gene known to cause the condition has been identified. Treatment and prognosis depend on the features and severity in each affected person.

OMIM® : 57 Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome. (117650) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Cerebrocostomandibular syndrome: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation.

Related Diseases for Cerebrocostomandibular Syndrome

Diseases in the Cerebrocostomandibular Syndrome family:

Cerebrocostomandibular-Like Syndrome

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformation, familial 32.0 PDCD10 KRIT1 CCM2
2 cavernous hemangioma 31.5 PDCD10 KRIT1 CCM2
3 cavernous malformation 30.9 STK26 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L
4 dysostosis 29.6 SF3B4 RNU4ATAC EFTUD2
5 cerebral cavernous malformations 3 29.2 STK26 STK25 STK24 PDCD10 KRIT1 CCM2
6 cerebral cavernous malformations 28.8 STK25 STK24 RAP2A RAP1B PDCD10 MAP3K3
7 cerebral cavernous malformations 2 28.8 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
8 congenital vascular cavernous malformations 11.0
9 familial hemangioma 11.0
10 vascular erectile tumor 11.0
11 hypoglossia-hypodactylia 11.0
12 microphthalmia, syndromic 9 10.9
13 joubert syndrome 18 10.9
14 cleft palate short stature vertebral anomalies 10.9
15 pierre robin syndrome 10.6
16 isolated pierre robin sequence 10.6
17 neural tube defects 10.4
18 scoliosis 10.4
19 cleft soft palate 10.3
20 respiratory failure 10.3
21 cystic fibrosis 10.2
22 hydrocephalus, congenital, 1 10.2
23 choanal atresia, posterior 10.2
24 fibroma 10.2
25 tracheomalacia 10.2
26 omphalocele 10.2
27 hypospadias 10.2
28 microcephaly 10.2
29 hydrocephalus 10.2
30 aqueous misdirection 10.2
31 macular retinal edema 10.2
32 polyhydramnios 10.2
33 horseshoe kidney 10.2
34 hypotonia 10.2
35 cerebral angioma 10.1 PDCD10 KRIT1 CCM2
36 venous malformations, multiple cutaneous and mucosal 10.1 PDCD10 KRIT1 CCM2
37 oligodendroglioma 10.0
38 anaplastic oligodendroglioma 10.0
39 ankylosis 10.0
40 klippel-trenaunay-weber syndrome 10.0 PDCD10 MAP3K3 KRIT1 CCM2
41 cleft palate, isolated 10.0
42 encephalopathy 10.0
43 brain angioma 9.9 PDCD10 KRIT1 ITGB1BP1 HEG1 CCM2
44 hemangioma of liver 9.9 PDCD10 KRIT1 HEG1 CCM2L CCM2
45 triiodothyronine receptor auxiliary protein 9.9
46 fatty liver disease 9.9
47 slow-channel congenital myasthenic syndrome 9.9
48 cleidocranial dysplasia 9.9
49 chromosome 2q35 duplication syndrome 9.9
50 yunis-varon syndrome 9.9

Graphical network of the top 20 diseases related to Cerebrocostomandibular Syndrome:



Diseases related to Cerebrocostomandibular Syndrome

Symptoms & Phenotypes for Cerebrocostomandibular Syndrome

Human phenotypes related to Cerebrocostomandibular Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 neonatal respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002643
4 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
5 posterior rib gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0030282
6 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
7 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
11 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
12 tracheomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002779
13 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
14 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
15 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
18 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
19 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
20 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
21 myelomeningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002475
22 hydranencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002324
23 short hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0010290
24 anteriorly placed anus 31 occasional (7.5%) HP:0001545
25 anal stenosis 31 occasional (7.5%) HP:0002025
26 porencephalic cyst 31 occasional (7.5%) HP:0002132
27 scoliosis 31 HP:0002650
28 high palate 31 HP:0000218
29 abnormality of the dentition 31 HP:0000164
30 gastroesophageal reflux 31 HP:0002020
31 postnatal growth retardation 31 HP:0008897
32 low-set ears 31 HP:0000369
33 horseshoe kidney 31 HP:0000085
34 ectopic kidney 31 HP:0000086
35 epicanthus 31 HP:0000286
36 atrial septal defect 31 HP:0001631
37 elbow flexion contracture 31 HP:0002987
38 congenital hip dislocation 31 HP:0001374
39 meningocele 58 Occasional (29-5%)
40 polyhydramnios 31 HP:0001561
41 patent ductus arteriosus 31 HP:0001643
42 long philtrum 31 HP:0000343
43 death in infancy 58 Frequent (79-30%)
44 malar flattening 31 HP:0000272
45 nasal speech 31 HP:0001611
46 spina bifida 58 Occasional (29-5%)
47 posteriorly rotated ears 31 HP:0000358
48 porencephaly 58 Occasional (29-5%)
49 renal cyst 31 HP:0000107
50 thoracic hypoplasia 31 HP:0005257

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
sacral fusion

Abdomen Gastrointestinal:
gastroesophageal reflux
nasogastric tube or gastrostomy feeding required (in most patients)
anteriorly placed anus (rare)
anal stenosis (rare)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Voice:
nasal speech

Neurologic Central Nervous System:
porencephaly
mental retardation (50% patients, likely secondary to neonatal hypoxia)

Skeletal Feet:
calcaneal epiphyseal stippling

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Teeth:
dental anomalies

Respiratory:
neonatal respiratory distress (requiring tracheostomy in most patients)

Respiratory Lung:
alveolar hypoplasia

Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Genitourinary Kidneys:
horseshoe kidney
renal cyst
renal ectopia

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Face:
long philtrum
malar hypoplasia
severe micrognathia (requiring surgical correction)

Head And Neck Mouth:
glossoptosis
cleft soft palate
high-arched palate
short palate
severely restricted mouth opening

Chest External Features:
bell-shaped thorax
small thorax

Chest Ribs Sternum Clavicles And Scapulae:
anomalous rib insertion to vertebrae
rudimentary rib
posterior rib gap defects
absent twelfth rib

Head And Neck Eyes:
epicanthal folds

Head And Neck Neck:
pterygium colli
accessory ossicle adjacent to hyoid bone (in some patients)
redundant posterior neck skin (in some patients)

Respiratory Airways:
abnormal tracheal cartilaginous ring

Skeletal Limbs:
hypoplastic humerus
flexion contracture (elbow)

Clinical features from OMIM®:

117650 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 8.8 MAP3K3 STK25 STK26

MGI Mouse Phenotypes related to Cerebrocostomandibular Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 CCM2 CDH5 EFTUD2 HEG1 ITGB1BP1 KLF2
2 embryo MP:0005380 9.91 CCM2 CDH5 EFTUD2 HEG1 KLF2 KRIT1
3 craniofacial MP:0005382 9.87 CCM2 CDH5 HEG1 ITGB1BP1 KLF2 KRIT1
4 mortality/aging MP:0010768 9.86 CCM2 CCM2L CDH5 EFTUD2 HEG1 ITGB1BP1
5 muscle MP:0005369 9.17 CCM2 CCM2L HEG1 KLF2 KRIT1 MAP3K3

Drugs & Therapeutics for Cerebrocostomandibular Syndrome

Drugs for Cerebrocostomandibular Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2 525-66-6 4946
2 Neurotransmitter Agents Phase 2
3 Adrenergic Antagonists Phase 2
4 Adrenergic beta-Antagonists Phase 2
5 Antihypertensive Agents Phase 2
6 Adrenergic Agents Phase 2
7 Vasodilator Agents Phase 2
8 Anti-Arrhythmia Agents Phase 2
9 Pharmaceutical Solutions Phase 1
10 Vaccines Phase 1
11 Anti-Retroviral Agents Phase 1
12
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
13
Olanzapine Approved, Investigational 132539-06-1 4585 135398745
14
Dopamine Approved 51-61-6, 62-31-7 681
15
Risperidone Approved, Investigational 106266-06-2 5073
16
Ziprasidone Approved 146939-27-7 60854
17
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
18
Artemether Approved 71963-77-4 119380 9796294 68911
19
Lumefantrine Approved 82186-77-4 6437380
20
Dihydroartemisinin Experimental, Investigational 71939-50-9 6918483
21
Piperaquine Experimental, Investigational 4085-31-8 5079497
22 Liver Extracts
23 Ether
24 Dopamine Agents
25 Dopamine Antagonists
26 Gastrointestinal Agents
27 Antidepressive Agents
28 Quetiapine Fumarate 111974-72-2
29 Psychotropic Drugs
30 Antipsychotic Agents
31 Serotonin Uptake Inhibitors
32 Antiemetics
33 Artemisinine
34 Artemisinins
35 Artemether, Lumefantrine Drug Combination
36 Hormone Antagonists
37 Hormones
38 Angiotensin Receptor Antagonists
39 diuretics
40 Mineralocorticoid Receptor Antagonists
41 Diuretics, Potassium Sparing
42 Mineralocorticoids
43
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 This Study is to Apply the Tongue Force to Correct the Dentofacial Deformities Unknown status NCT00916084 Phase 3
2 This Study is to Apply the Tongue Force to Correct the Dentofacial Deformities Completed NCT00519415 Phase 3
3 Cardiovascular Risk Factors in Veterans With Bipolar Disorder Completed NCT00499096 Phase 3
4 Treat_CCM Clinical Trial A Multicenter Randomized Clinical Trial on Propranolol in Cerebral Cavernous Malformation Recruiting NCT03589014 Phase 2 Propranolol
5 Effect of Oral Propranolol on mRNA Expression in Symptomatice Caavernous Malformation Active, not recruiting NCT03474614 Phase 2 Propranolol
6 Study to Assess the Safety and Durability of Viral Control Beyond 24 Weeks of Analytical Treatment Interruption After the Administration of Candidate HIV-1 Vaccines DNA.HTI, MVA.HTI and ChAdOx1.HTI or Placebo in Early Treated HIV-1 Positive Individuals (ATI Extension of AELIX-002 Study) Active, not recruiting NCT04385875 Phase 1
7 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Unknown status NCT03540329
8 Accuracy Evaluation of A CAD/CAM Surgical Template for Mandible Distraction Unknown status NCT03270618
9 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962
10 Improving Care for Children With Complex Needs (I3CN) Study Completed NCT01587105
11 Improving the Quality of Care for Pain and Depression in Persons With Multiple Sclerosis Completed NCT02137044
12 Evaluation of the Safety and Efficacy of the OPTIMIZER® System in Subjects With Moderate-to-Severe Heart Failure With Ejection Fraction Between 25% and 45%: FIX-HF-5C Completed NCT01381172
13 FIX-HF-5CA: Continued Access Protocol for the Evaluation of the OPTIMIZER Smart System in Subjects With Moderate-to-Severe Heart Failure With Ejection Fraction Between 25% and 45% Completed NCT03102437
14 FIX-HF-5C2: Evaluation of the Safety and Efficacy of the 2-lead OPTIMIZER® Smart System in Subjects With Moderate-to-Severe Heart Failure With Ejection Fraction Between 25% and 45% Completed NCT03339310
15 Acute Neurotrophic Effects of a Non Excitatory Cardial Stimulation by Optimizer III System in Patients With Heart Failure Completed NCT01789112
16 Clinical Effects of Cardiac Contractility Modulation (CCM) With the OPTIMIZER III System in Subjects With Heart Failure Caused by Left Ventricular Dysfunction Completed NCT02895048
17 Comparative Evaluation of Paranasal Sinus Volumes Between Maxillary Deficiency Patients Requiring Le Fort Osteotomy and Control Patients Completed NCT04637568
18 Evaluation of an Educational Booklet for Perioperative Orthognathic Surgery: Randomized Clinical Trial. Completed NCT01803204
19 Predictive Modeling for Treatment of Upper Airway Obstruction in Young Children Completed NCT01690078
20 The Added Value of a Mobile Application of Community Case Management on Under-5 Referral, Re-consultation and Hospitalization Rates in Malawi: a Pragmatic Stepped-wedge Cluster Randomized Trial Completed NCT02763345
21 Uterine Preserving Apical Prolapse Correction With Laparoscopic Lateral Mesh Suspension: Initial Experience by Defining Anatomic and Subjective Success Completed NCT03387202
22 Disseminating Evidence-based Mood Disorder Chronic Care Models Completed NCT01615458
23 Resting Energy Expenditure in Cardiac Patients Operated Under Cardiopulmonary Bypass Completed NCT02463123
24 Multinational Collaborative Evaluation of Corneal Confocal Microscopy as a Surrogate Endpoint for the Identification and Prediction of Diabetic Neuropathy in Type 1 Diabetes Completed NCT02423434
25 P. Falciparum Infection Dynamics and Transmission to Inform Elimination (INDIE-1a) Completed NCT03705624
26 Italian Registry on Cardiac Contractility Modulation Therapy Recruiting NCT04327323
27 A Clinic-Based Case Manager Administered Telephone Intervention to Reduce Cardiovascular Disease Risk in Persons Living With HIV Recruiting NCT03839394
28 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
29 Patient Survey as a Tool to Quality Assurance and Quality Improvement - Department of Anesthesiology and Operative Intensive Care (CCM/CVK), Charité - Universitätsmedizin Berlin Recruiting NCT02413775
30 A Prospective, Multi-center, Non-randomized, Single Arm Open Label Study of 620 Subjects Receiving the OPTIMIZER Smart With CCM Therapy as Standard of Care Recruiting NCT03970343
31 Retrospective Evaluation of POCD Data of Studies From the Department of Anesthesiology and Operative Intensive Care Medicine (CCM, CVK) Charité - Universitätsmedizin Berlin Recruiting NCT02832193
32 Comparative Study Between Custom-made Polyether Ether Ketone and Titanium Mesh for Augmentation of Atrophic Posterior Mandible. Randomized Clinical Trial Recruiting NCT04017117
33 The Relevance Between the microRNA-30e in Plasma and the Prognosis of Schizophrenia Patients Recruiting NCT03007303 Atypical Antipsychotic
34 The Effectiveness of Collaborative Care Versus Usual Care for Pain After Traumatic Brain Injury Recruiting NCT03523923
35 A Patient-Centered Framework to Test the Comparative Effectiveness of Culturally and Contextually Appropriate Program Options for Latinos With Diabetes From Low-Income Households Active, not recruiting NCT03004664
36 P. Falciparum Infection Dynamics and Transmission to Inform Elimination Not yet recruiting NCT04053907
37 Patient-Centered Reminders to Inform, Motivate, and Engage Colorectal Cancer Screening Adherence in Rural Communities: The PRIME-CRC Trial Not yet recruiting NCT04313114
38 Cardiac Contractility Modulation (CCM) Therapy in Subjects With Medically Refractory Heart Failure: A Randomized Efficacy Study Terminated NCT02857309 Optimal medical therapy
39 Optimization of Waiting - Time in the Anesthesia Admissions Ambulance Department of Anaesthesia and Intensive Care Medicine CVK/CCM, Charité - University Medicine Berlin by Support of a Mobile Application - a Pilot Study Withdrawn NCT02457767

Search NIH Clinical Center for Cerebrocostomandibular Syndrome

Cochrane evidence based reviews: micrognathism

Genetic Tests for Cerebrocostomandibular Syndrome

Genetic tests related to Cerebrocostomandibular Syndrome:

# Genetic test Affiliating Genes
1 Cerebro-Costo-Mandibular Syndrome 29 SNRPB

Anatomical Context for Cerebrocostomandibular Syndrome

MalaCards organs/tissues related to Cerebrocostomandibular Syndrome:

40
Kidney, Tongue, Bone, Liver, Heart, Skin

Publications for Cerebrocostomandibular Syndrome

Articles related to Cerebrocostomandibular Syndrome:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. 6 57 61
26971886 2016
2
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. 57 6 61
25504470 2015
3
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. 6 57 61
25047197 2014
4
Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome. 6 61
26240113 2016
5
Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation. 57 61
24100706 2014
6
Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome. 57 61
20177378 2010
7
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. 61 57
19008299 2009
8
Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review. 57 61
12514369 2003
9
Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome? 61 57
10323736 1999
10
Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome? 57 61
9781016 1998
11
Cerebro-costo-mandibular syndrome. 57 61
8882789 1996
12
Cerebrocostomandibular syndrome in four sibs, two pairs of twins. 61 57
1941967 1991
13
Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings. 57 61
3544846 1987
14
Cerebro-costo-mandibular syndrome: a familial case consistent with autosomal recessive inheritance. 61 57
4067764 1985
15
The cerebro-costo-mandibular syndrome: third report of familial occurrence. 57 61
3899422 1985
16
Cerebro-costo-mandibular syndrome with autosomal dominant inheritance. 57 61
7264806 1981
17
Cerebro-costo-mandibular syndrome. 57 61
7411303 1980
18
Cerebro-costo-mandibular syndrome. A case report and review of the literature. 57 61
7390499 1980
19
[Cerebro-costo-mandibular syndrome. Three new cases (author's transl)]. 61 57
634782 1978
20
Cerebro-costo-mandibular syndrome: a case with cardiac anomaly. 61 57
1111690 1975
21
Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome--a Pierre Robin-like syndrome with rib dysplasia. 57 61
5058512 1972
22
Cerebro-costo-mandibular syndrome. A new familial developmental disorder. 57 61
5427859 1970
23
Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development. 57
5928011 1966
24
Local modulation of the Wnt/β-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome. 61
31884688 2020
25
Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features. 61
31915619 2019
26
Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses. 61
31741810 2019
27
Ocular Features of Cerebro-Costo-Mandibular Syndrome. 61
29117007 2018
28
Anna's compassion brought us some much-needed normality. 61
27794704 2016
29
A case of severe type of cerebro-costo-mandibular syndrome. 61
29652453 2016
30
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
31
Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome. 61
25174690 2015
32
Ex utero intrapartum treatment for an infant with cerebro-costo-mandibular syndrome. 61
25252050 2014
33
Cerebro-costo-mandibular syndrome: Pierre Robin sequence with rib dysplasia. 61
21222053 2011
34
Total absence of ribs in a newborn with cerebrocostomandibular syndrome. 61
20658933 2011
35
Cerebro-costo-mandibular syndrome: Report of two cases. 61
27307910 2011
36
Preautopsy imaging in cerebro-costo-mandibular syndrome. 61
20464384 2010
37
Cerebro-costo-mandibular syndrome: prognosis and proposal for classification. 61
20507350 2010
38
Successful weaning of a laryngeal mask airway after a tongue-lip adhesion operation in a case with cerebro-costo-mandibular syndrome. 61
20225540 2010
39
Spine deformities in rare congenital syndromes: clinical issues. 61
19644333 2009
40
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 61
18935987 2008
41
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
42
[Prenatal diagnosis of a familial case of Cerebro-costo-mandibular syndrome]. 61
17652984 2007
43
Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence. 61
15239033 2004
44
[Cerebro-costo-mandibular syndrome. A case-report]. 61
14761732 2004
45
Three-dimensional ultrasonographic presentation of micrognathia. 61
12099566 2002
46
Cerebro-costo-mandibular syndrome: a case report. 61
11737720 2001
47
Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission. 61
11746136 2001
48
Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? 61
11310989 2001
49
Cerebro-costo-mandibular syndrome. 61
11200996 2001
50
[Cerebro-costo-mandibular syndrome]. 61
11462472 2001

Variations for Cerebrocostomandibular Syndrome

ClinVar genetic disease variations for Cerebrocostomandibular Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNRPB NM_003091.4(SNRPB):c.155+302G>C SNV Pathogenic 183432 rs786201020 20:2447951-2447951 20:2467305-2467305
2 SNRPB NM_003091.4(SNRPB):c.155+302G>T SNV Pathogenic 183433 rs786201020 20:2447951-2447951 20:2467305-2467305
3 SNRPB NM_003091.4(SNRPB):c.155+406C>A SNV Pathogenic 183434 rs786201021 20:2447847-2447847 20:2467201-2467201
4 SNRPB NM_003091.4(SNRPB):c.-72C>A SNV Pathogenic 183435 rs786201022 20:2451408-2451408 20:2470762-2470762
5 SNRPB NM_003091.4(SNRPB):c.155+301G>C SNV Pathogenic/Likely pathogenic 183431 rs786201019 20:2447952-2447952 20:2467306-2467306

UniProtKB/Swiss-Prot genetic disease variations for Cerebrocostomandibular Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SNRPB p.Asn55Ser VAR_073380
2 SNRPB p.Asn55Thr VAR_073381
3 SNRPB p.Ser56Arg VAR_073382
4 SNRPB p.Ser56Trp VAR_073383

Expression for Cerebrocostomandibular Syndrome

Search GEO for disease gene expression data for Cerebrocostomandibular Syndrome.

Pathways for Cerebrocostomandibular Syndrome

Pathways related to Cerebrocostomandibular Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040

Pathways related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.75 STK26 STK24 RHOA RAP1B
2 11.47 RHOA KLF2 CDH5
3 10.52 SNRPB SF3B4 EFTUD2

GO Terms for Cerebrocostomandibular Syndrome

Cellular components related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.46 RAP1B KRIT1 HEG1 CDH5
2 U2-type precatalytic spliceosome GO:0071005 9.13 SNRPB SF3B4 EFTUD2
3 cell periphery GO:0071944 8.92 STK26 RHOA ITGB1BP1 CDH5

Biological processes related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.77 RHOA RAP1B KRIT1
2 protein autophosphorylation GO:0046777 9.76 STK26 STK25 STK24 MAP3K3
3 cell morphogenesis GO:0000902 9.73 RHOA KLF2 CDH5
4 multicellular organism growth GO:0035264 9.71 KLF2 HEG1 CCM2
5 cellular response to drug GO:0035690 9.69 RAP2A RAP1B EFTUD2
6 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.61 RHOA PDCD10 ITGB1BP1
7 positive regulation of stress-activated MAPK cascade GO:0032874 9.6 STK25 PDCD10
8 establishment of epithelial cell apical/basal polarity GO:0045198 9.58 RHOA RAP2A
9 stress fiber assembly GO:0043149 9.58 RHOA PDCD10
10 wound healing, spreading of cells GO:0044319 9.57 RHOA PDCD10
11 Rap protein signal transduction GO:0032486 9.55 RAP2A RAP1B
12 pericardium development GO:0060039 9.52 HEG1 CCM2
13 vasculature development GO:0001944 9.5 HEG1 CDH5 CCM2
14 establishment of Golgi localization GO:0051683 9.49 STK25 PDCD10
15 venous blood vessel morphogenesis GO:0048845 9.48 HEG1 CCM2
16 Golgi reassembly GO:0090168 9.4 STK25 PDCD10
17 endothelial cell development GO:0001885 9.37 HEG1 CCM2
18 regulation of establishment of cell polarity GO:2000114 9.33 RAP1B KRIT1 CDH5
19 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 9.26 STK25 PDCD10
20 microvillus assembly GO:0030033 9.13 STK26 RAP2A RAP1B
21 response to hydrogen peroxide GO:0042542 8.92 STK26 STK25 STK24 PDCD10

Molecular functions related to Cerebrocostomandibular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 STK26 STK25 STK24 SNRPB SF3B4 RHOA
2 GTPase activity GO:0003924 9.56 RHOA RAP2A RAP1B EFTUD2
3 nucleotide binding GO:0000166 9.56 STK26 STK25 STK24 RHOA RAP2A RAP1B
4 GDP binding GO:0019003 8.8 RHOA RAP2A RAP1B

Sources for Cerebrocostomandibular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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