CFDS
MCID: CRB147
MIFTS: 34

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 12 58 72 36 29 6 39 70
Cerebellar-Facial-Dental Syndrome 57 12 58 72 17
Cfds 57 72

Characteristics:

Orphanet epidemiological data:

58
cerebellar-facial-dental syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
cerebellofaciodental syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Cerebellofaciodental Syndrome

KEGG : 36 Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations of BRF1 have been revealed in CFDS families. It is suggested that BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

MalaCards based summary : Cerebellofaciodental Syndrome, also known as cerebellar-facial-dental syndrome, is related to alacrima, achalasia, and mental retardation syndrome and cerebellar hypoplasia. An important gene associated with Cerebellofaciodental Syndrome is BRF1 (BRF1 RNA Polymerase III Transcription Initiation Factor Subunit). Affiliated tissues include pons and bone, and related phenotypes are scoliosis and global developmental delay

Disease Ontology : 12 A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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

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

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.0
2 cerebellar hypoplasia 10.0
3 ear malformation 10.0
4 microcephaly 10.0

Symptoms & Phenotypes for Cerebellofaciodental Syndrome

Human phenotypes related to Cerebellofaciodental Syndrome:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 dental malocclusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000689
4 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 taurodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000679
7 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
8 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
9 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
10 sparse eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045075
11 macrodontia of permanent maxillary central incisor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000675
12 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
13 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
14 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
15 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
16 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
17 alveolar ridge overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009085
18 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
19 laryngeal stridor 58 31 occasional (7.5%) Frequent (79-30%) HP:0006511
20 enlarged cisterna magna 58 31 frequent (33%) Frequent (79-30%) HP:0002280
21 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
22 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
23 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
24 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
25 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
26 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
27 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
29 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
30 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
31 slender long bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003100
32 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
33 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
34 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
35 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
36 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
37 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
38 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
39 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
40 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
41 severe short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003510
42 abnormal t-wave 58 31 occasional (7.5%) Occasional (29-5%) HP:0005135
43 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
44 hypoplasia of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0012110
45 inferior vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007068
46 limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002509
47 ascending tubular aorta aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004970
48 contractures involving the joints of the feet 58 31 occasional (7.5%) Occasional (29-5%) HP:0008366
49 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
50 abnormality of midbrain morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002418

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
cerebellar hypoplasia
delayed development
thin corpus callosum enlarged ventricles
pontine hypoplasia (1 family)

Head And Neck Neck:
short neck

Growth Height:
short stature

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

Skeletal Hands:
tapering fingers

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

Skeletal Spine:
scoliosis

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

Head And Neck Ears:
low-set ears

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 (Updated 20-May-2021)

Drugs & Therapeutics for Cerebellofaciodental Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open, Prospective Study for the Validation of the Predictive Value of Upper Airway Segmentation and CFD Analysis on Outcome Parameters of the Mandibular Replacement Appliance (MRA) Therapy in Obstructive Sleep Apnea Hypopnea Syndrome OSAHS) Patients Unknown status NCT01524510 Phase 4
2 Exploring the Mechanism of Plaque Rupture in Acute Coronary Syndrome Using Coronary CT Angiography and Computational Fluid Dynamics II (EMERALD II) Study Unknown status NCT03591328
3 Functional Respiratory Imaging During Pulmonary Exacerbations in Adults With Non-cystic Fibrosis Bronchiectasis Unknown status NCT03818646
4 Computed Tomography (CT) and Lung Function Data Collection for Computational Fluid Dynamics (CFD) in COPD Patients Completed NCT00966459
5 A Prospective, Multicenter, Blinded, Randomized, Noninferiority Clinical Trial of Coronary Angiography Fractional Flow Reserve (caFFR) Versus Fractional Flow Reserve (FFR) to Guide Percutaneous Coronary Intervention(Flash FFR Ⅱ ) Recruiting NCT04575207
6 Prediction and Validation of Clinical Course of Coronary Artery Disease With CT-Derived Non-Invasive Hemodynamic Phenotyping and Plaque Characterization Active, not recruiting NCT04794868

Search NIH Clinical Center for Cerebellofaciodental Syndrome

Genetic Tests for Cerebellofaciodental Syndrome

Genetic tests related to Cerebellofaciodental Syndrome:

# Genetic test Affiliating Genes
1 Cerebellofaciodental Syndrome 29 BRF1

Anatomical Context for Cerebellofaciodental Syndrome

MalaCards organs/tissues related to Cerebellofaciodental Syndrome:

40
Pons, Bone

Publications for Cerebellofaciodental Syndrome

Articles related to Cerebellofaciodental Syndrome:

# Title Authors PMID Year
1
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 57 6
25561519 2015
2
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. 61
33645901 2021
3
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1. 61
32896090 2020
4
BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies. 61
27748960 2017

Variations for Cerebellofaciodental Syndrome

ClinVar genetic disease variations for Cerebellofaciodental Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRF1 NM_001519.4(BRF1):c.677C>T (p.Ser226Leu) SNV Pathogenic 161423 rs606231416 GRCh37: 14:105707619-105707619
GRCh38: 14:105241282-105241282
2 BRF1 NM_001519.4(BRF1):c.875C>A (p.Pro292His) SNV Pathogenic 161426 rs606231450 GRCh37: 14:105693011-105693011
GRCh38: 14:105226674-105226674
3 BRF1 NM_001519.4(BRF1):c.667C>T (p.Arg223Trp) SNV Pathogenic 161425 rs370270828 GRCh37: 14:105707629-105707629
GRCh38: 14:105241292-105241292
4 BRF1 , BTBD6 NM_001519.4(BRF1):c.544+2713G>A SNV Pathogenic 1027935 GRCh37: 14:105716131-105716131
GRCh38: 14:105249794-105249794
5 BRF1 NM_001519.4(BRF1):c.776C>T (p.Thr259Met) SNV Pathogenic 161424 rs373957300 GRCh37: 14:105695169-105695169
GRCh38: 14:105228832-105228832
6 BRF1 NM_001519.4(BRF1):c.1592_1594AGA[2] (p.Lys533del) Microsatellite Uncertain significance 689745 rs868673013 GRCh37: 14:105684053-105684055
GRCh38: 14:105217716-105217718
7 BRF1 NM_001519.4(BRF1):c.779T>C (p.Leu260Pro) SNV Uncertain significance 689746 rs1595325674 GRCh37: 14:105695166-105695166
GRCh38: 14:105228829-105228829
8 BRF1 NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly) SNV Uncertain significance 1027934 GRCh37: 14:105683939-105683939
GRCh38: 14:105217602-105217602

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

72
# 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

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....