MCID: SNJ002
MIFTS: 12

Snijders Blok-Campeau Syndrome

Categories: Genetic diseases

Aliases & Classifications for Snijders Blok-Campeau Syndrome

MalaCards integrated aliases for Snijders Blok-Campeau Syndrome:

Name: Snijders Blok-Campeau Syndrome 58 6
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies; Iddmsf 58
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies 58
Snibcps 58
Iddmsf 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
variable severity and features


Classifications:



External Ids:

OMIM 58 618205

Summaries for Snijders Blok-Campeau Syndrome

OMIM : 58 Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018). (618205)

MalaCards based summary : Snijders Blok-Campeau Syndrome, is also known as intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies; iddmsf. An important gene associated with Snijders Blok-Campeau Syndrome is CHD3 (Chromodomain Helicase DNA Binding Protein 3).

Related Diseases for Snijders Blok-Campeau Syndrome

Symptoms & Phenotypes for Snijders Blok-Campeau Syndrome

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
astigmatism
hypermetropia
epicanthal folds
more
Head And Neck Face:
frontal bossing
prominent forehead
midface hypoplasia

Head And Neck Nose:
broad nasal bridge
large nose

Neurologic Behavioral Psychiatric Manifestations:
autistic features
friendly personality
stereotypic behaviors

Head And Neck Mouth:
high arched palate

Head And Neck Head:
macrocephaly (in most patients)

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
dysarthria
global developmental delay
unsteady gait
speech apraxia
broad-based gait
more
Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
dental abnormalities

Skeletal Spine:
scoliosis (in some patients)

Skeletal Feet:
foot deformities, mild

Clinical features from OMIM:

618205

Drugs & Therapeutics for Snijders Blok-Campeau Syndrome

Search Clinical Trials , NIH Clinical Center for Snijders Blok-Campeau Syndrome

Genetic Tests for Snijders Blok-Campeau Syndrome

Anatomical Context for Snijders Blok-Campeau Syndrome

Publications for Snijders Blok-Campeau Syndrome

Variations for Snijders Blok-Campeau Syndrome

ClinVar genetic disease variations for Snijders Blok-Campeau Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD3 NM_001005271.2(CHD3): c.3130C> T (p.Arg1044Trp) single nucleotide variant Uncertain significance rs1555611722 GRCh37 Chromosome 17, 7804024: 7804024
2 CHD3 NM_001005271.2(CHD3): c.3130C> T (p.Arg1044Trp) single nucleotide variant Uncertain significance rs1555611722 GRCh38 Chromosome 17, 7900706: 7900706
3 CHD3 NM_001005273.2(CHD3): c.2745G> T (p.Leu915Phe) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7900352: 7900352
4 CHD3 NM_001005273.2(CHD3): c.2745G> T (p.Leu915Phe) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7803670: 7803670
5 CHD3 NM_001005273.2(CHD3): c.3472T> C (p.Trp1158Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7903038: 7903038
6 CHD3 NM_001005273.2(CHD3): c.3472T> C (p.Trp1158Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7806356: 7806356
7 CHD3 NM_001005273.2(CHD3): c.3505C> T (p.Arg1169Trp) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7903281: 7903281
8 CHD3 NM_001005273.2(CHD3): c.3505C> T (p.Arg1169Trp) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7806599: 7806599
9 CHD3 NM_001005273.2(CHD3): c.3515G> A (p.Arg1172Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 7806609: 7806609
10 CHD3 NM_001005273.2(CHD3): c.3515G> A (p.Arg1172Gln) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 7903291: 7903291

Expression for Snijders Blok-Campeau Syndrome

Search GEO for disease gene expression data for Snijders Blok-Campeau Syndrome.

Pathways for Snijders Blok-Campeau Syndrome

GO Terms for Snijders Blok-Campeau Syndrome

Sources for Snijders Blok-Campeau 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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