Cerebrocostomandibular Syndrome

Also Known As:

CCM Syndrome; Cerebrocostomandibular-Like Syndrome; Rib Gap Defects with Micrognathia

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Cerebrocostomandibular Syndrome: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Cerebrocostomandibular Syndrome: 2
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Cerebrocostomandibular Syndrome: 2
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Cerebrocostomandibular Syndrome: 2
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 338
        Cerebrocostomandibular Syndrome: 2
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 338
      - Cerebrocostomandibular Syndrome: 2
Stomatognathic Diseases: 705
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 338
      - Cerebrocostomandibular Syndrome: 2
- Stomatognathic System Abnormalities
  - Maxillofacial Abnormalities: 10
    - Jaw Abnormalities: 10
      - Micrognathism: 338
        Cerebrocostomandibular Syndrome: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Micrognathism: 338
        Cerebrocostomandibular Syndrome: 2
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 338
        Cerebrocostomandibular Syndrome: 2
Musculoskeletal System
- Skeleton
  - Bone and Bones
    - Rib Cage
      - Ribs
        Cerebrocostomandibular Syndrome: 2

Related Diseases

1.	Pierre Robin Syndrome (Syndrome, Pierre Robin)
2.	Dysostoses
3.	Nager type Acrofacial dysostosis
4.	Burn-Mckeown syndrome
5.	Richieri Costa Pereira syndrome

Experts

1.	Alam, Sabrina Shameen: 1 article (01/2022)
2.	Bareke, Eric: 1 article (01/2022)
3.	Beauchamp, Marie-Claude: 1 article (01/2022)
4.	Boucher, Alexia: 1 article (01/2022)
5.	Dong, Yanchen: 1 article (01/2022)
6.	Jerome-Majewska, Loydie A: 1 article (01/2022)
7.	Kumar, Shruti: 1 article (01/2022)
8.	Majewski, Jacek: 1 article (01/2022)
9.	Nzirorera, Nadine: 1 article (01/2022)
10.	Padilla, Reinnier: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cerebrocostomandibular Syndrome:

1.	Messenger RNA (mRNA)IBA 11/01/2015 - "Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. "
2.	RibonucleoproteinsIBA 01/01/2022 - "Heterozygous mutations in SNRPB, an essential core component of the five small ribonucleoprotein particles of the spliceosome, are responsible for cerebrocostomandibular syndrome (CCMS). "