CFDS
MCID: CRB147
MIFTS: 27

Cerebellofaciodental Syndrome (CFDS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cerebellofaciodental Syndrome

MalaCards integrated aliases for Cerebellofaciodental Syndrome:

Name: Cerebellofaciodental Syndrome 58 60 76 38 30 6 41 74
Cerebellar-Facial-Dental Syndrome 58 60 76 30 6 17
Cfds 58 76

Characteristics:

Orphanet epidemiological data:

60
cerebellar-facial-dental syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated families have been reported (last curated january 2015)


HPO:

33
cerebellofaciodental syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebellofaciodental Syndrome

OMIM : 58 Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015). (616202)

MalaCards based summary : Cerebellofaciodental Syndrome, also known as cerebellar-facial-dental syndrome, is related to corneal dystrophy, fleck and congenital femoral deficiency. An important gene associated with Cerebellofaciodental Syndrome is BRF1 (BRF1 RNA Polymerase III Transcription Initiation Factor Subunit). Affiliated tissues include bone and pons, and related phenotypes are laryngomalacia and hypoplasia of the pons

UniProtKB/Swiss-Prot : 76 Cerebellofaciodental syndrome: An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.

Related Diseases for Cerebellofaciodental Syndrome

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



Diseases related to Cerebellofaciodental Syndrome

Symptoms & Phenotypes for Cerebellofaciodental Syndrome

Human phenotypes related to Cerebellofaciodental Syndrome:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 laryngomalacia 33 occasional (7.5%) HP:0001601
2 hypoplasia of the pons 33 occasional (7.5%) HP:0012110
3 laryngeal stridor 33 occasional (7.5%) HP:0006511
4 low-set ears 33 HP:0000369
5 short neck 33 HP:0000470
6 intellectual disability 33 HP:0001249
7 scoliosis 33 HP:0002650
8 dental malocclusion 33 HP:0000689
9 global developmental delay 33 HP:0001263
10 microcephaly 33 HP:0000252
11 short stature 33 HP:0004322
12 cerebellar hypoplasia 33 HP:0001321
13 taurodontia 33 HP:0000679
14 fine hair 33 HP:0002213
15 tapered finger 33 HP:0001182
16 sparse hair 33 HP:0008070
17 slender long bone 33 HP:0003100
18 sparse and thin eyebrow 33 HP:0000535
19 macrodontia of permanent maxillary central incisor 33 HP:0000675

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
intellectual disability
cerebellar hypoplasia
delayed development
thin corpus callosum enlarged ventricles
pontine hypoplasia (1 family)

Head And Neck Teeth:
dental malocclusion
taurodontism
prominent upper incisors
bialveolar protrusion
prominent alveolar processes

Head And Neck Eyes:
sparse eyebrows
wave-shaped palpebral fissures

Skeletal Hands:
tapering fingers

Head And Neck Head:
microcephaly (-2 to -3 sd)

Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis

Growth Height:
short stature

Skin Nails Hair Hair:
sparse eyebrows
thin hair

Skeletal Limbs:
slender long bones

Respiratory Larynx:
laryngeal stridor (in some patients)
laryngomalacia (in some patients)

Clinical features from OMIM:

616202

Drugs & Therapeutics for Cerebellofaciodental Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebellofaciodental Syndrome

Genetic Tests for Cerebellofaciodental Syndrome

Genetic tests related to Cerebellofaciodental Syndrome:

# Genetic test Affiliating Genes
1 Cerebellar-Facial-Dental Syndrome 30
2 Cerebellofaciodental Syndrome 30 BRF1

Anatomical Context for Cerebellofaciodental Syndrome

MalaCards organs/tissues related to Cerebellofaciodental Syndrome:

42
Bone, Pons

Publications for Cerebellofaciodental Syndrome

Variations for Cerebellofaciodental Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 BRF1 p.Arg223Trp VAR_072710 rs370270828
2 BRF1 p.Ser226Leu VAR_072711 rs606231416
3 BRF1 p.Thr259Met VAR_072712 rs373957300
4 BRF1 p.Pro292His VAR_072713 rs606231450

ClinVar genetic disease variations for Cerebellofaciodental Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRF1 NM_001519.3(BRF1): c.875C> A (p.Pro292His) single nucleotide variant Pathogenic rs606231450 GRCh38 Chromosome 14, 105226674: 105226674
2 BRF1 NM_001519.3(BRF1): c.875C> A (p.Pro292His) single nucleotide variant Pathogenic rs606231450 GRCh37 Chromosome 14, 105693011: 105693011
3 BRF1 NM_001519.3(BRF1): c.776C> T (p.Thr259Met) single nucleotide variant Pathogenic rs373957300 GRCh37 Chromosome 14, 105695169: 105695169
4 BRF1 NM_001519.3(BRF1): c.776C> T (p.Thr259Met) single nucleotide variant Pathogenic rs373957300 GRCh38 Chromosome 14, 105228832: 105228832
5 BRF1 NM_001519.3(BRF1): c.677C> T (p.Ser226Leu) single nucleotide variant Pathogenic rs606231416 GRCh38 Chromosome 14, 105241282: 105241282
6 BRF1 NM_001519.3(BRF1): c.677C> T (p.Ser226Leu) single nucleotide variant Pathogenic rs606231416 GRCh37 Chromosome 14, 105707619: 105707619
7 BRF1 NM_001519.3(BRF1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs370270828 GRCh37 Chromosome 14, 105707629: 105707629
8 BRF1 NM_001519.3(BRF1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs370270828 GRCh38 Chromosome 14, 105241292: 105241292

Expression for Cerebellofaciodental Syndrome

Search GEO for disease gene expression data for Cerebellofaciodental Syndrome.

Pathways for Cerebellofaciodental Syndrome

GO Terms for Cerebellofaciodental Syndrome

Sources for Cerebellofaciodental 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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