CCMS
MCID: CRB154
MIFTS: 35

Cerebrocostomandibular Syndrome (CCMS)

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

Aliases & Classifications for Cerebrocostomandibular Syndrome

MalaCards integrated aliases for Cerebrocostomandibular Syndrome:

Name: Cerebrocostomandibular Syndrome 58 54 60 76 38 74
Cerebro-Costo-Mandibular Syndrome 54 76 30 6
Rib Gap Defects with Micrognathia 58 54 76
Ccms 58 54 76
Ccm Syndrome 54 76
Micrognathism 45

Characteristics:

Orphanet epidemiological data:

60
cerebrocostomandibular syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cerebrocostomandibular syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cerebrocostomandibular Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Cerebrocostomandibular Syndrome, also known as cerebro-costo-mandibular syndrome, is related to cerebral cavernous malformations and cavernous malformation. An important gene associated with Cerebrocostomandibular Syndrome is SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include kidney, bone and skin, and related phenotypes are cleft palate and micrognathia

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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

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:

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
3 neonatal respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002643
4 bell-shaped thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0001591
5 posterior rib gap 60 33 hallmark (90%) Very frequent (99-80%) HP:0030282
6 intellectual disability 60 33 very rare (1%) Frequent (79-30%) HP:0001249
7 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
8 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162
10 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
11 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
12 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
13 tracheomalacia 60 33 frequent (33%) Frequent (79-30%) HP:0002779
14 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413
15 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
16 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
17 webbed neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000465
18 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
19 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
20 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
21 myelomeningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002475
22 short hard palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0010290
23 hydranencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002324
24 anteriorly placed anus 33 occasional (7.5%) HP:0001545
25 anal stenosis 33 occasional (7.5%) HP:0002025
26 porencephalic cyst 33 occasional (7.5%) HP:0002132
27 malar flattening 33 HP:0000272
28 low-set ears 33 HP:0000369
29 high palate 33 HP:0000218
30 scoliosis 33 HP:0002650
31 abnormality of the dentition 33 HP:0000164
32 gastroesophageal reflux 33 HP:0002020
33 long philtrum 33 HP:0000343
34 ectopic kidney 33 HP:0000086
35 death in infancy 60 Frequent (79-30%)
36 patent ductus arteriosus 33 HP:0001643
37 epicanthus 33 HP:0000286
38 postnatal growth retardation 33 HP:0008897
39 horseshoe kidney 33 HP:0000085
40 atrial septal defect 33 HP:0001631
41 elbow flexion contracture 33 HP:0002987
42 congenital hip dislocation 33 HP:0001374
43 meningocele 60 Occasional (29-5%)
44 polyhydramnios 33 HP:0001561
45 nasal speech 33 HP:0001611
46 spina bifida 60 Occasional (29-5%)
47 thoracic hypoplasia 33 HP:0005257
48 porencephaly 60 Occasional (29-5%)
49 renal cyst 33 HP:0000107
50 posteriorly rotated ears 33 HP:0000358

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive

Head And Neck Head:
microcephaly

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

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

Genitourinary Kidneys:
horseshoe kidney
renal cyst
renal ectopia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Teeth:
dental anomalies

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

Respiratory Lung:
alveolar hypoplasia

Skeletal Limbs:
hypoplastic humerus
flexion contracture (elbow)

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

Growth Other:
postnatal growth retardation

Skeletal Pelvis:
congenital hip dislocation

Voice:
nasal speech

Chest External Features:
bell-shaped thorax
small thorax

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

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

Skeletal Feet:
calcaneal epiphyseal stippling

Clinical features from OMIM:

117650

Drugs & Therapeutics for Cerebrocostomandibular Syndrome

Search Clinical Trials , 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 30 SNRPB

Anatomical Context for Cerebrocostomandibular Syndrome

MalaCards organs/tissues related to Cerebrocostomandibular Syndrome:

42
Kidney, Bone, Skin, Heart

Publications for Cerebrocostomandibular Syndrome

Articles related to Cerebrocostomandibular Syndrome:

(show all 11)
# Title Authors Year
1
Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome. ( 26240113 )
2016
2
A case of severe type of cerebro-costo-mandibular syndrome. ( 29652453 )
2016
3
Total absence of ribs in a newborn with cerebrocostomandibular syndrome. ( 20658933 )
2011
4
Cerebro-costo-mandibular syndrome: Report of two cases. ( 27307910 )
2011
5
Hypoplastic left heart in cerebrocostomandibular syndrome. ( 9783720 )
1998
6
Special imaging casebook. Cerebrocostomandibular syndrome with hypoxic myocardiopathy and encephalopathy. ( 8979195 )
1996
7
Maxillo-mandibular development in cerebrocostomandibular syndrome. ( 1437884 )
1992
8
Cerebrocostomandibular syndrome in four sibs, two pairs of twins. ( 1941967 )
1991
9
Cerebrocostomandibular syndrome. Case report and literature review. ( 3978982 )
1985
10
The course of the cerebrocostomandibular syndrome. ( 890107 )
1977
11
The cerebrocostomandibular syndrome. ( 4418316 )
1974

Variations for Cerebrocostomandibular Syndrome

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

76
# 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

ClinVar genetic disease variations for Cerebrocostomandibular Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SNRPB NM_003091.3(SNRPB): c.155+301G> C single nucleotide variant Pathogenic rs786201019 GRCh37 Chromosome 20, 2447952: 2447952
2 SNRPB NM_003091.3(SNRPB): c.155+301G> C single nucleotide variant Pathogenic rs786201019 GRCh38 Chromosome 20, 2467306: 2467306
3 SNRPB NM_003091.3(SNRPB): c.155+302G> C single nucleotide variant Pathogenic rs786201020 GRCh37 Chromosome 20, 2447951: 2447951
4 SNRPB NM_003091.3(SNRPB): c.155+302G> C single nucleotide variant Pathogenic rs786201020 GRCh38 Chromosome 20, 2467305: 2467305
5 SNRPB NM_003091.3(SNRPB): c.155+302G> T single nucleotide variant Pathogenic rs786201020 GRCh37 Chromosome 20, 2447951: 2447951
6 SNRPB NM_003091.3(SNRPB): c.155+302G> T single nucleotide variant Pathogenic rs786201020 GRCh38 Chromosome 20, 2467305: 2467305
7 SNRPB NM_003091.3(SNRPB): c.155+406C> A single nucleotide variant Pathogenic rs786201021 GRCh38 Chromosome 20, 2467201: 2467201
8 SNRPB NM_003091.3(SNRPB): c.155+406C> A single nucleotide variant Pathogenic rs786201021 GRCh37 Chromosome 20, 2447847: 2447847
9 SNRPB NM_003091.3(SNRPB): c.-72C> A single nucleotide variant Pathogenic rs786201022 GRCh38 Chromosome 20, 2470762: 2470762
10 SNRPB NM_003091.3(SNRPB): c.-72C> A single nucleotide variant Pathogenic rs786201022 GRCh37 Chromosome 20, 2451408: 2451408

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:

38
# Name Kegg Source Accession
1 Spliceosome hsa03040

GO Terms for Cerebrocostomandibular Syndrome

Sources for Cerebrocostomandibular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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