CFDS
MCID: CRB147
MIFTS: 28

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 57 59 75 29 6 40 73
Cerebellar-Facial-Dental Syndrome 57 59 75 29 6
Cfds 57 75

Characteristics:

Orphanet epidemiological data:

59
cerebellar-facial-dental syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebellofaciodental syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebellofaciodental Syndrome

OMIM : 57 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, pons and lung, and related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cerebellofaciodental Syndrome:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 intellectual disability 32 HP:0001249
4 scoliosis 32 HP:0002650
5 dental malocclusion 32 HP:0000689
6 global developmental delay 32 HP:0001263
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 laryngomalacia 32 occasional (7.5%) HP:0001601
10 cerebellar hypoplasia 32 HP:0001321
11 taurodontia 32 HP:0000679
12 fine hair 32 HP:0002213
13 tapered finger 32 HP:0001182
14 sparse hair 32 HP:0008070
15 slender long bone 32 HP:0003100
16 hypoplasia of the pons 32 occasional (7.5%) HP:0012110
17 laryngeal stridor 32 occasional (7.5%) HP:0006511
18 sparse and thin eyebrow 32 HP:0000535
19 macrodontia of permanent maxillary central incisor 32 HP:0000675

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 29
2 Cerebellofaciodental Syndrome 29 BRF1

Anatomical Context for Cerebellofaciodental Syndrome

MalaCards organs/tissues related to Cerebellofaciodental Syndrome:

41
Bone, Pons, Lung, Kidney, Heart

Publications for Cerebellofaciodental Syndrome

Variations for Cerebellofaciodental Syndrome

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

75
# 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 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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