Bohring syndrome

Also Known As:

Bohring-Opitz syndrome; C-like syndrome; Opitz trigonocephaly-like syndrome

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Synostosis: 796
        Craniosynostoses: 2516
        Bohring syndrome: 12
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Craniosynostoses: 2516
      - Bohring syndrome: 12
  - Craniofacial Abnormalities: 203
    - Craniosynostoses: 2516
      - Bohring syndrome: 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Craniosynostoses: 2516
        Bohring syndrome: 12
    - Craniofacial Abnormalities: 203
      - Craniosynostoses: 2516
        Bohring syndrome: 12
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Bohring syndrome: 12
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Bohring syndrome: 12
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Bohring syndrome: 12
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Bohring syndrome: 12

Related Diseases

1.	Hypertelorism
2.	Exophthalmos (Proptosis)
3.	Cleft Lip (Harelip)
4.	Congenital Abnormalities (Deformity)
5.	Craniosynostoses (Craniosynostosis)

Experts

1.	Newbury-Ecob, Ruth: 2 articles (01/2019 - 06/2011)
2.	Arboleda, Valerie A: 1 article (01/2022)
3.	Awamleh, Zain: 1 article (01/2022)
4.	Chad, Lauren: 1 article (01/2022)
5.	Chater-Diehl, Eric: 1 article (01/2022)
6.	Choufani, Sanaa: 1 article (01/2022)
7.	Costain, Gregory: 1 article (01/2022)
8.	Kianmahd, Rebecca R: 1 article (01/2022)
9.	Russell, Bianca E: 1 article (01/2022)
10.	Scherer, Stephen W: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bohring syndrome:

1.	ChromatinIBA 01/01/2023 - "Bohring-Opitz syndrome (BOS) is a rare genetic condition caused by pathogenic variants in ASXL1, which is a gene involved in chromatin regulation. " 01/01/2022 - "Given the role of ASXL1 in chromatin modification, we hypothesized that pathogenic ASXL1 variants underlying Bohring-Opitz syndrome (BOS) have a unique DNAm signature. " 01/01/2017 - "As an exception, trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene. "
2.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2013 - "Their presentation resembles that of Bohring-Opitz syndrome, which is associated with de novo nonsense mutations in ASXL1. " 06/26/2011 - "We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. " 06/26/2011 - "De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome."
3.	Proteins (Proteins, Gene)FDA Link 01/01/2012 - "Human ASXL proteins, orthologs of Drosophila Additional Sex combs, have been implicated in conjunction with TET2 as a major target for mutations and translocations leading to a wide range of myeloid leukemias, related myelodysplastic conditions (ASXL1 and ASXL2) and the Bohring-Opitz syndrome, a developmental disorder (ASXL1). " 01/01/2023 - "De novo protein-truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS; OMIM #605039), a rare neurodevelopmental condition characterized by severe intellectual disabilities, distinctive facial features, hypertrichosis, increased risk of Wilms tumor, and variable congenital anomalies, including heart defects and severe skeletal defects giving rise to a typical BOS posture. "
4.	Retinaldehyde (Retinal)IBA 01/01/2019 - "This paper expands the retinal phenotype to include a distinctive maculopathy in a recently described homozygous mutation in the KLHL7 gene in two young adults presenting with features that overlap the Bohring-Opitz syndrome and CS."

Therapies and Procedures

Sutures (Suture)

01/01/2018 - "Bohring-Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. "
10/01/2007 - "The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant neurodevelopmental delay. "
08/27/1999 - "We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. "
06/15/2006 - "We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive. "