CCMS
MCID: CRB154
MIFTS: 34

Cerebrocostomandibular Syndrome (CCMS)

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

Aliases & Classifications for Cerebrocostomandibular Syndrome

MalaCards integrated aliases for Cerebrocostomandibular Syndrome:

Name: Cerebrocostomandibular Syndrome 57 53 59 75 37 73
Cerebro-Costo-Mandibular Syndrome 53 75 29 6
Rib Gap Defects with Micrognathia 57 53 75
Ccms 57 53 75
Ccm Syndrome 53 75
Micrognathism 44

Characteristics:

Orphanet epidemiological data:

59
cerebrocostomandibular syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cerebrocostomandibular syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cerebrocostomandibular Syndrome

NIH Rare Diseases : 53 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 intellectual disability and cerebral calcification

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)

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Voice:
nasal speech

Skeletal Pelvis:
congenital hip dislocation

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

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

Human phenotypes related to Cerebrocostomandibular Syndrome:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 very rare (1%) Frequent (79-30%) HP:0001249
2 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
3 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
4 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
5 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
6 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
7 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
10 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
11 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
12 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
13 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
14 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
15 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
16 tracheomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0002779
17 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
18 neonatal respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002643
19 myelomeningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002475
20 short hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0010290
21 hydranencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002324
22 bell-shaped thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0001591
23 posterior rib gap 59 32 hallmark (90%) Very frequent (99-80%) HP:0030282
24 malar flattening 32 HP:0000272
25 low-set ears 32 HP:0000369
26 high palate 32 HP:0000218
27 scoliosis 32 HP:0002650
28 abnormality of the dentition 32 HP:0000164
29 gastroesophageal reflux 32 HP:0002020
30 long philtrum 32 HP:0000343
31 ectopic kidney 32 HP:0000086
32 death in infancy 59 Frequent (79-30%)
33 patent ductus arteriosus 32 HP:0001643
34 epicanthus 32 HP:0000286
35 postnatal growth retardation 32 HP:0008897
36 horseshoe kidney 32 HP:0000085
37 atrial septal defect 32 HP:0001631
38 meningocele 59 Occasional (29-5%)
39 polyhydramnios 32 HP:0001561
40 nasal speech 32 HP:0001611
41 spina bifida 59 Occasional (29-5%)
42 anteriorly placed anus 32 occasional (7.5%) HP:0001545
43 thoracic hypoplasia 32 HP:0005257
44 anal stenosis 32 occasional (7.5%) HP:0002025
45 porencephaly 59 Occasional (29-5%)
46 congenital hip dislocation 32 HP:0001374
47 renal cyst 32 HP:0000107
48 posteriorly rotated ears 32 HP:0000358
49 11 pairs of ribs 32 HP:0000878
50 short humerus 32 HP:0005792

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 29 SNRPB

Anatomical Context for Cerebrocostomandibular Syndrome

MalaCards organs/tissues related to Cerebrocostomandibular Syndrome:

41
Kidney, Bone, Skin, Heart

Publications for Cerebrocostomandibular Syndrome

Articles related to Cerebrocostomandibular Syndrome:

# Title Authors Year
1
Total absence of ribs in a newborn with cerebrocostomandibular syndrome. ( 20658933 )
2011
2
Hypoplastic left heart in cerebrocostomandibular syndrome. ( 9783720 )
1998
3
Special imaging casebook. Cerebrocostomandibular syndrome with hypoxic myocardiopathy and encephalopathy. ( 8979195 )
1996
4
Maxillo-mandibular development in cerebrocostomandibular syndrome. ( 1437884 )
1992
5
Cerebrocostomandibular syndrome in four sibs, two pairs of twins. ( 1941967 )
1991
6
Cerebrocostomandibular syndrome. Case report and literature review. ( 3978982 )
1985
7
The course of the cerebrocostomandibular syndrome. ( 890107 )
1977
8
The cerebrocostomandibular syndrome. ( 4418316 )
1974

Variations for Cerebrocostomandibular Syndrome

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

75
# 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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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