Marshall-Smith syndrome

Networked: 13 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Marshall-Smith syndrome: 13
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Marshall-Smith syndrome: 13
Nervous System Diseases: 14178
- Cranial Nerve Diseases: 554
  - Ocular Motility Disorders: 514
    - Oculomotor Nerve Diseases: 222
      - Congenital Cranial Dysinnervation Disorders: 4
        Septo-Optic Dysplasia: 77
        Marshall-Smith syndrome: 13
- Nervous System Malformations: 35
  - Optic Nerve Hypoplasia: 109
    - Septo-Optic Dysplasia: 77
      - Marshall-Smith syndrome: 13
  - Agenesis of Corpus Callosum: 54
    - Septo-Optic Dysplasia: 77
      - Marshall-Smith syndrome: 13
Eye Diseases: 3522
- Ocular Motility Disorders: 514
  - Oculomotor Nerve Diseases: 222
    - Congenital Cranial Dysinnervation Disorders: 4
      - Septo-Optic Dysplasia: 77
        Marshall-Smith syndrome: 13

Related Diseases

1.	Sotos Syndrome
2.	Pain (Aches)

Experts

1.	Mammì, Corrado: 3 articles (01/2018 - 12/2012)
2.	Priolo, Manuela: 3 articles (01/2018 - 12/2012)
3.	Pisanti, Maria Antonietta: 2 articles (01/2018 - 09/2015)
4.	Laganà, Carmelo: 2 articles (09/2015 - 12/2012)
5.	Acero, Inés Hernández: 1 article (01/2018)
6.	Alkuraya, Fowzan S: 1 article (01/2018)
7.	Arias, Pedro: 1 article (01/2018)
8.	Bernardini, Laura: 1 article (01/2018)
9.	Bijlsma, Emilia K: 1 article (01/2018)
10.	Cole, Trevor: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Marshall-Smith syndrome:

1.	NFI Transcription FactorsIBA 06/01/2023 - "A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome." 12/01/2017 - "On the other hand, mutations in the nuclear factor I/X gene ( NFIX ) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall-Smith syndrome. " 06/01/2023 - "The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS). " 09/01/2015 - "The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. " 12/10/2012 - "The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) family proteins, which are implicated as site-specific DNA-binding proteins and is deleted or mutated in a subset of patients with Sotos-like overgrowth syndrome and in patients with Marshall-Smith syndrome. "
2.	Proteins (Proteins, Gene)FDA Link 09/01/2015 - "The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. " 12/10/2012 - "The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) family proteins, which are implicated as site-specific DNA-binding proteins and is deleted or mutated in a subset of patients with Sotos-like overgrowth syndrome and in patients with Marshall-Smith syndrome. "
3.	Transcription Factors (Transcription Factor)IBA 06/01/2023 - "The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS). "
4.	NucleotidesIBA 08/01/2023 - "NFIX gene sequencing revealed a novel heterozygous c.1287delC (p.G430Vfs*34) mutation in patient 1 whose clinical diagnosis was compatible with Marshall-Smith syndrome, and in the second patient, physical features consistent with Malan syndrome, was detected a heterozygous one nucleotide duplication, c.303dupC (pCys102LeufsTer17)."
5.	Hyaluronic Acid (Hyaluronan)IBA 08/23/2010 - "Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report."
6.	DNA-Binding Proteins (DNA Binding Protein)IBA 12/10/2012 - "The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) family proteins, which are implicated as site-specific DNA-binding proteins and is deleted or mutated in a subset of patients with Sotos-like overgrowth syndrome and in patients with Marshall-Smith syndrome. "
7.	Codon (Codons)IBA 01/01/2018 - "Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. "
8.	Anesthetics (Anesthetic Agents)IBA 03/01/2011 - "[Anesthetic implications of Marshall-Smith syndrome]."

Therapies and Procedures

1.	Anesthesia 01/01/2011 - "Anesthesia out of surgical area in a child with Marshall-Smith Syndrome." 08/01/2007 - "[Anesthesia in a patient with Marshall-Smith syndrome: case report]."
2.	Airway Management 04/01/2008 - "Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome."
3.	Distraction Osteogenesis 08/01/2010 - "Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome."
4.	Decompression 08/01/1991 - "Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. "