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Otofaciocervical Syndrome

Also Known As:

Familial oto-facio-cervical dysmorphia; Fara Chlupackova syndrome; Ofc Syndrome

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

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Branchio-Oto-Renal Syndrome: 46
      - Otofaciocervical Syndrome: 2
  - Chromosome Disorders: 136
    - Branchio-Oto-Renal Syndrome: 46
      - Otofaciocervical Syndrome: 2
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Branchio-Oto-Renal Syndrome: 46
      - Otofaciocervical Syndrome: 2

Related Diseases

1.	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)

Experts

1.	Abraham, Roshini S: 1 article (01/2020)
2.	Al-Mousa, Hamoud: 1 article (01/2020)
3.	Al-Saud, Bander K: 1 article (01/2020)
4.	Alajlan, Huda: 1 article (01/2020)
5.	Alazami, Anas M: 1 article (01/2020)
6.	Azzari, Chiara: 1 article (01/2020)
7.	Boisson, Bertrand: 1 article (01/2020)
8.	Bondioni, Maria Pia: 1 article (01/2020)
9.	Casanova, Jean Laurent: 1 article (01/2020)
10.	Dobbs, A Kerry: 1 article (01/2020)

Drugs and Biologics

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

1.	Testosterone (Sustanon)FDA Link 10/01/2018 - "To gain further insight into the OFC syndrome, we here report levels of estradiol, testosterone, and progesterone for these line and treatment groups in the time period leading up to and into lay. "
2.	Progesterone FDA LinkGeneric 10/01/2018 - "To gain further insight into the OFC syndrome, we here report levels of estradiol, testosterone, and progesterone for these line and treatment groups in the time period leading up to and into lay. "
3.	Estradiol (Delestrogen)FDA LinkGeneric 10/01/2018 - "To gain further insight into the OFC syndrome, we here report levels of estradiol, testosterone, and progesterone for these line and treatment groups in the time period leading up to and into lay. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 01/01/2020 - "We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation, despite successful engraftment in three of them. "