SNIBCPS
MCID: SNJ002
MIFTS: 28

Snijders Blok-Campeau Syndrome (SNIBCPS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Snijders Blok-Campeau Syndrome

MalaCards integrated aliases for Snijders Blok-Campeau Syndrome:

Name: Snijders Blok-Campeau Syndrome 57 43 73 29 6 17
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies 57 43 73
Snibcps 57 43 73
Iddmsf 57 43 73
Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies; Iddmsf 57
Syndrome, Snijders Blok-Campeau 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
snijders blok-campeau syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Snijders Blok-Campeau Syndrome

MedlinePlus Genetics : 43 Snijders Blok-Campeau syndrome is characterized by intellectual disability, speech problems, and distinctive facial features.Intellectual disability in individuals with Snijders Blok-Campeau syndrome ranges from mild to severe. Some people with this condition also have low muscle tone (hypotonia), seizures, or autistic behaviors that affect communication and social interaction.While some people with Snijders Blok-Campeau syndrome develop limited language, others acquire only a few words or never speak. If speech occurs, it usually develops after age 2. Affected individuals can experience stuttering, problems coordinating movements of the mouth and tongue (oromotor dysfunction), or difficulty producing the sequences of sounds and syllables needed to form words (apraxia). In general, people with this condition have a very social personality.Individuals with Snijders Blok-Campeau syndrome have distinctive facial features. The eyes are frequently affected, and features often include widely spaced eyes (ocular hypertelorism), deep-set eyes, narrowed openings of the eyes (narrowed palpebral fissures), an increased distance between the inner corners of the eyes (telecanthus), and sparse eyebrows. Additional facial features can include full cheeks, a pointed chin, a prominent forehead (frontal bossing), a sunken appearance of the middle of the face (midface hypoplasia), a broad nasal bridge, low-set ears that may be rotated backward, and a thin upper lip. Affected individuals often have an abnormally sized head; most have an unusually large head (macrocephaly), though some have an unusually small head (microcephaly). Some people with Snijders Blok-Campeau syndrome have premature closure of certain bones of the skull (craniosynostosis), which can contribute to an abnormal head shape.Most individuals with Snijders Blok-Campeau syndrome have vision problems, including farsightedness (hyperopia) or eyes that do not look in the same direction (strabismus).About half of people with Snijders Blok-Campeau syndrome have brain abnormalities, such as enlarged spaces in the brain where cerebrospinal fluid (CSF) accumulates. Less commonly, affected individuals are born with a hole between the two upper chambers of the heart (atrial septal defect) or another problem with the heart's structure or function (congenital heart disease).

MalaCards based summary : Snijders Blok-Campeau Syndrome, is also known as intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies. An important gene associated with Snijders Blok-Campeau Syndrome is CHD3 (Chromodomain Helicase DNA Binding Protein 3). Affiliated tissues include heart, tongue and brain, and related phenotypes are scoliosis and cerebral visual impairment

OMIM® : 57 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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Snijders Blok-Campeau syndrome: An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity.

Related Diseases for Snijders Blok-Campeau Syndrome

Symptoms & Phenotypes for Snijders Blok-Campeau Syndrome

Human phenotypes related to Snijders Blok-Campeau Syndrome:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 cerebral visual impairment 31 very rare (1%) HP:0100704
3 macrocephaly 31 HP:0000256
4 frontal bossing 31 HP:0002007
5 dysarthria 31 HP:0001260
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 abnormality of the dentition 31 HP:0000164
9 wide nasal bridge 31 HP:0000431
10 delayed speech and language development 31 HP:0000750
11 stereotypy 31 HP:0000733
12 prominent forehead 31 HP:0011220
13 strabismus 31 HP:0000486
14 low-set ears 31 HP:0000369
15 high, narrow palate 31 HP:0002705
16 epicanthus 31 HP:0000286
17 ventriculomegaly 31 HP:0002119
18 midface retrusion 31 HP:0011800
19 broad-based gait 31 HP:0002136
20 astigmatism 31 HP:0000483
21 prominent nose 31 HP:0000448
22 generalized hypotonia 31 HP:0001290
23 unsteady gait 31 HP:0002317
24 speech apraxia 31 HP:0011098
25 hypermetropia 31 HP:0000540
26 stuttering 31 HP:0025268
27 delayed ability to walk 31 HP:0031936
28 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
prominent forehead
midface hypoplasia

Head And Neck Eyes:
hypertelorism
strabismus
astigmatism
hypermetropia
epicanthal folds
more
Muscle Soft Tissue:
hypotonia

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)

Neurologic Central Nervous System:
dysarthria
global developmental delay
broad-based gait
unsteady gait
speech apraxia
more
Head And Neck Ears:
low-set ears

Head And Neck Nose:
broad nasal bridge
large nose

Head And Neck Teeth:
dental abnormalities

Skeletal Spine:
scoliosis (in some patients)

Skeletal Feet:
foot deformities, mild

Clinical features from OMIM®:

618205 (Updated 05-Mar-2021)

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

Genetic tests related to Snijders Blok-Campeau Syndrome:

# Genetic test Affiliating Genes
1 Snijders Blok-Campeau Syndrome 29 CHD3

Anatomical Context for Snijders Blok-Campeau Syndrome

MalaCards organs/tissues related to Snijders Blok-Campeau Syndrome:

40
Heart, Tongue, Brain

Publications for Snijders Blok-Campeau Syndrome

Articles related to Snijders Blok-Campeau Syndrome:

# Title Authors PMID Year
1
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 6 57
29463886 2019
2
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 6
31048695 2019
3
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 57
30397230 2018
4
The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers. 57
26867680 2016
5
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. 61
33571694 2021
6
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. 61
32483341 2020

Variations for Snijders Blok-Campeau Syndrome

ClinVar genetic disease variations for Snijders Blok-Campeau Syndrome:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHD3 NM_001005271.3(CHD3):c.3692G>A (p.Arg1231Gln) SNV Pathogenic 549743 rs1567861501 17:7806609-7806609 17:7903291-7903291
2 CHD3 NM_001005273.2(CHD3):c.2954G>A (p.Arg985Gln) SNV Pathogenic 549733 rs1567856331 17:7804025-7804025 17:7900707-7900707
3 CHD3 NM_005852.4(CHD3):c.3477C>A (p.Asn1159Lys) SNV Pathogenic 549739 rs754919272 17:7806361-7806361 17:7903043-7903043
4 CHD3 NM_001005273.2(CHD3):c.3362G>C (p.Arg1121Pro) SNV Pathogenic 549736 rs1567860112 17:7806037-7806037 17:7902719-7902719
5 CHD3 NM_001005271.3(CHD3):c.3682C>T (p.Arg1228Trp) SNV Pathogenic 549741 rs1567861468 17:7806599-7806599 17:7903281-7903281
6 CHD3 NM_001005271.3(CHD3):c.3130C>T (p.Arg1044Trp) SNV Pathogenic 520977 rs1555611722 17:7804024-7804024 17:7900706-7900706
7 CHD3 NM_001005273.2(CHD3):c.2745G>T (p.Leu915Phe) SNV Pathogenic 549730 rs1567855669 17:7803670-7803670 17:7900352-7900352
8 CHD3 NM_001005273.2(CHD3):c.3472T>C (p.Trp1158Arg) SNV Pathogenic 549738 rs1567860891 17:7806356-7806356 17:7903038-7903038
9 CHD3 NM_001005271.3(CHD3):c.3073C>T (p.Arg1025Trp) SNV Likely pathogenic 422607 rs1064795892 17:7803967-7803967 17:7900649-7900649
10 CHD3 NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val) SNV Likely pathogenic 976739 17:7806034-7806034 17:7902716-7902716
11 CHD3 NM_001005273.2(CHD3):c.3407C>T (p.Thr1136Ile) SNV Likely pathogenic 549737 rs1567860640 17:7806291-7806291 17:7902973-7902973
12 CHD3 NM_001005271.3(CHD3):c.4202G>A (p.Arg1401Gln) SNV Likely pathogenic 549746 rs1567863732 17:7807890-7807890 17:7904572-7904572
13 CHD3 NM_001005273.2(CHD3):c.5642G>T (p.Arg1881Leu) SNV Likely pathogenic 549748 rs1567877108 17:7813797-7813797 17:7910479-7910479
14 CHD3 NM_001005273.2(CHD3):c.3482A>G (p.His1161Arg) SNV Likely pathogenic 549740 rs1567860919 17:7806366-7806366 17:7903048-7903048
15 CHD3 NM_001005273.2(CHD3):c.3512A>G (p.His1171Arg) SNV Likely pathogenic 549742 rs1567861489 17:7806606-7806606 17:7903288-7903288
16 CHD3 NM_005852.4(CHD3):c.3357_3358delinsTC (p.Asp1120His) Indel Likely pathogenic 549735 rs1567860075 17:7806032-7806033 17:7902714-7902715
17 CHD3 NM_001005273.2(CHD3):c.3707T>C (p.Leu1236Pro) SNV Likely pathogenic 549745 rs1567861894 17:7806801-7806801 17:7903483-7903483
18 CHD3 NM_001005271.3(CHD3):c.2834A>G (p.His945Arg) SNV Likely pathogenic 549729 rs1567855081 17:7803326-7803326 17:7900008-7900008
19 CHD3 NM_001005273.2(CHD3):c.2761G>A (p.Glu921Lys) SNV Likely pathogenic 549731 rs1567855704 17:7803686-7803686 17:7900368-7900368
20 CHD3 NM_001005273.2(CHD3):c.2882G>A (p.Gly961Glu) SNV Likely pathogenic 549732 rs1567856045 17:7803953-7803953 17:7900635-7900635
21 CHD3 NM_005852.4(CHD3):c.3322_3324GGT[1] (p.Gly1109del) Microsatellite Uncertain significance 549734 rs1567859975 17:7805996-7805998 17:7902678-7902680
22 CHD3 NM_001005273.2(CHD3):c.3560G>C (p.Arg1187Pro) SNV Uncertain significance 549744 rs1567861571 17:7806654-7806654 17:7903336-7903336
23 CHD3 NM_001005273.3(CHD3):c.214-20T>C SNV Uncertain significance 931783 17:7793869-7793869 17:7890551-7890551
24 CHD3 NM_001005273.3(CHD3):c.4357_4358+2del Deletion Uncertain significance 982879 17:7809305-7809308 17:7905987-7905990
25 CHD3 NM_001005273.3(CHD3):c.4904G>A (p.Arg1635His) SNV Uncertain significance 982881 17:7810786-7810786 17:7907468-7907468

UniProtKB/Swiss-Prot genetic disease variations for Snijders Blok-Campeau Syndrome:

73 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CHD3 p.His886Arg VAR_081507 rs156785508
2 CHD3 p.Leu915Phe VAR_081508 rs156785566
3 CHD3 p.Glu921Lys VAR_081509 rs156785570
4 CHD3 p.Gly961Glu VAR_081510 rs156785604
5 CHD3 p.Arg985Gln VAR_081511 rs156785633
6 CHD3 p.Arg985Trp VAR_081512 rs155561172
7 CHD3 p.Asp1120His VAR_081514
8 CHD3 p.Arg1121Pro VAR_081515 rs156786011
9 CHD3 p.Thr1136Ile VAR_081516 rs156786064
10 CHD3 p.Trp1158Arg VAR_081517 rs156786089
11 CHD3 p.Asn1159Lys VAR_081518 rs754919272
12 CHD3 p.His1161Arg VAR_081519 rs156786091
13 CHD3 p.Arg1169Trp VAR_081520 rs156786146
14 CHD3 p.His1171Arg VAR_081521 rs156786148
15 CHD3 p.Arg1172Gln VAR_081522 rs156786150
16 CHD3 p.Leu1236Pro VAR_081524 rs156786189
17 CHD3 p.Arg1342Gln VAR_081525 rs156786373
18 CHD3 p.Arg1881Leu VAR_081526 rs156787710

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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