Snijders Blok-Campeau syndrome

caused by heterozygous mutation in the CHD3 DNA helicase; OMIM: 618205

Also Known As:

IDDMSF; Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies; SNIBCPS

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Snijders Blok-Campeau syndrome: 3
  - Developmental Disabilities: 700
    - Snijders Blok-Campeau syndrome: 3
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Craniofacial Dysostosis: 243
        Hypertelorism: 176
        Snijders Blok-Campeau syndrome: 3
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Craniofacial Dysostosis: 243
      - Hypertelorism: 176
        Snijders Blok-Campeau syndrome: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Craniofacial Dysostosis: 243
        Hypertelorism: 176
        Snijders Blok-Campeau syndrome: 3
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Snijders Blok-Campeau syndrome: 3
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Snijders Blok-Campeau syndrome: 3
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Snijders Blok-Campeau syndrome: 3
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Snijders Blok-Campeau syndrome: 3

Experts

1.	Barakat, Tahsin Stefan: 2 articles (01/2022 - 10/2020)
2.	Bebin, E Martina: 2 articles (01/2022 - 10/2020)
3.	Snijders Blok, Lot: 2 articles (01/2022 - 10/2020)
4.	Thompson, Michelle L: 2 articles (01/2022 - 10/2020)
5.	Astuti, Galuh D N: 1 article (01/2022)
6.	Beck-Wödl, Stefanie: 1 article (01/2022)
7.	Beunders, Gea: 1 article (01/2022)
8.	Brown, Natasha J: 1 article (01/2022)
9.	Brunet, Theresa: 1 article (01/2022)
10.	Brunner, Han G: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Snijders Blok-Campeau syndrome:

1.	DNA HelicasesIBA 10/01/2020 - "There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. " 01/01/2023 - "SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome. "
3.	Histones (Histone)IBA 01/01/2023 - "SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. "
4.	Carrier Proteins (Binding Protein)IBA 01/01/2023 - "SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. "