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Cutis Gyrata Syndrome of Beare And Stevenson

mutation in FGFR2

Also Known As:

Beare-Stevenson Cutis Gyrata Syndrome; Cutis Gyrata Syndrome of Beare-Stevenson

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

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Synostosis: 796
        Craniosynostoses: 2516
        Cutis Gyrata Syndrome of Beare And Stevenson: 3
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Craniosynostoses: 2516
      - Cutis Gyrata Syndrome of Beare And Stevenson: 3
  - Craniofacial Abnormalities: 203
    - Craniosynostoses: 2516
      - Cutis Gyrata Syndrome of Beare And Stevenson: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Cutis Gyrata Syndrome of Beare And Stevenson: 3
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Craniosynostoses: 2516
        Cutis Gyrata Syndrome of Beare And Stevenson: 3
    - Craniofacial Abnormalities: 203
      - Craniosynostoses: 2516
        Cutis Gyrata Syndrome of Beare And Stevenson: 3
Body Regions
- Head
  - Ear
    - Cutis Gyrata Syndrome of Beare And Stevenson: 3
Sense Organs
- Ear
  - Cutis Gyrata Syndrome of Beare And Stevenson: 3

Related Diseases

1.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
2.	Synostosis
3.	Craniosynostoses (Craniosynostosis)
4.	Acrocephalosyndactylia (Apert Syndrome)
5.	Acrocephalopolydactylous Dysplasia

Experts

1.	Cohen, M Michael: 1 article (03/2009)
2.	Akai, Takuya: 1 article (08/2002)
3.	Iizuka, Hideaki: 1 article (08/2002)
4.	Kawakami, Shigehiko: 1 article (08/2002)
5.	Kishibe, Miyuki: 1 article (08/2002)
6.	Kobayashi, Azusa: 1 article (08/2002)
7.	Ozawa, Tetsuo: 1 article (08/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cutis Gyrata Syndrome of Beare And Stevenson:

1.	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 08/01/2002 - "A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene." 08/01/1996 - "Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome."
2.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 08/01/2002 - "This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. "
3.	DNA (Deoxyribonucleic Acid)IBA 08/01/2002 - "This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. "

Therapies and Procedures

1.

Sutures (Suture)

03/01/2009 - "Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). "