Burn-Mckeown syndrome

Also Known As:

Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Respiratory Tract Diseases: 6015
- Nose Diseases: 183
  - Choanal Atresia: 229
    - Burn-Mckeown syndrome: 4
- Respiratory System Abnormalities
  - Choanal Atresia: 229
    - Burn-Mckeown syndrome: 4
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Deafness: 5416
        Burn-Mckeown syndrome: 4
- Nose Diseases: 183
  - Choanal Atresia: 229
    - Burn-Mckeown syndrome: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Burn-Mckeown syndrome: 4
  - Respiratory System Abnormalities
    - Choanal Atresia: 229
      - Burn-Mckeown syndrome: 4
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Burn-Mckeown syndrome: 4
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Burn-Mckeown syndrome: 4
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Deafness: 5416
        Burn-Mckeown syndrome: 4
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Burn-Mckeown syndrome: 4
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Burn-Mckeown syndrome: 4

Related Diseases

1.	Mandibulofacial Dysostosis (Treacher Collins Syndrome)
2.	Retinitis Pigmentosa (Pigmentary Retinopathy)
3.	Pierre Robin Syndrome (Syndrome, Pierre Robin)
4.	Microcephaly
5.	Goldenhar Syndrome (Hemifacial Microsomia)

Experts

1.	Newman, William G: 2 articles (01/2021 - 01/2020)
2.	O'Keefe, Raymond T: 2 articles (01/2021 - 01/2020)
3.	Wood, Katherine A: 2 articles (01/2021 - 01/2020)
4.	Eadsforth, Megan A: 1 article (01/2021)
5.	Douzgou, Sofia: 1 article (01/2020)
6.	Kimber, Susan J: 1 article (01/2020)
7.	O'Flaherty, Julieta: 1 article (01/2020)
8.	Rowlands, Charlie F: 1 article (01/2020)
9.	Thomas, Huw B: 1 article (01/2020)
10.	Woods, Steven: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Burn-Mckeown 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. " 01/01/2020 - "The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. "
2.	RNA Splicing FactorsIBA 07/08/2022 - "Genetic variants affecting the function of several core splicing factors, namely SF3B4, SF3B2, EFTUD2, SNRPB and TXNL4A, are responsible for MFD in five related but distinct syndromes known as Nager and Rodriguez syndromes (NRS), craniofacial microsomia (CFM), mandibulofacial dysostosis with microcephaly (MFDM), cerebro-costo-mandibular syndrome (CCMS) and Burn-McKeown syndrome (BMKS), respectively. " 01/01/2020 - "The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. "
3.	U5 Small Nuclear RibonucleoproteinIBA 01/01/2021 - "Variants in the genes encoding proteins of the U5 snRNP cause two distinct and tissue-specific human disease phenotypes - variants in PRPF6, PRPF8, and SNRP200 are associated with retinitis pigmentosa (RP), while variants in EFTUD2 and TXNL4A cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Variants in the genes encoding proteins of the U5 snRNP cause two distinct and tissue-specific human disease phenotypes - variants in PRPF6, PRPF8, and SNRP200 are associated with retinitis pigmentosa (RP), while variants in EFTUD2 and TXNL4A cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively. "