Fryns syndrome

Also Known As:

Diaphragmatic hernia, abnormal face, and distal limb anomalies; Moerman Van den berghe Fryns syndrome

Networked: 10 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Fryns syndrome: 10
- Anatomical Pathological Conditions
  - Hernia: 7582
    - Internal Hernia: 499
      - Diaphragmatic Hernia: 741
        Fryns syndrome: 10
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Fryns syndrome: 10
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Fryns syndrome: 10

Related Diseases

1.	Congenital Diaphragmatic Hernias
2.	De Lange Syndrome (Cornelia De Lange Syndrome)
3.	Congenital Microtia
4.	Fetal Alcohol Spectrum Disorders
5.	CHARGE Syndrome

Experts

1.	Dott, B: 2 articles (10/2012 - 01/2008)
2.	Al Suwaidi, Hessa H: 1 article (05/2022)
3.	Bricker, Leanne: 1 article (05/2022)
4.	Sajjad, Yasmin: 1 article (05/2022)
5.	Winter-Paquette, Laura M: 1 article (05/2022)
6.	Greczan, Milena: 1 article (01/2021)
7.	Jezela-Stanek, Aleksandra: 1 article (01/2021)
8.	Kosinski, Przemyslaw: 1 article (01/2021)
9.	Astruc, D: 1 article (10/2012)
10.	Badila-Timbolschi, D: 1 article (10/2012)

Drugs and Biologics

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

1.	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 05/01/2022 - "The genetic etiology of Fryns syndrome has not been definitively established, although, much like CHIME and Mabry syndrome, can be caused by variants in glycosylphosphatidylinositol (GPI) anchor pathway genes. " 01/01/2021 - "Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review."
2.	nitrofenIBA 01/01/2005 - "Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome." 06/01/2001 - "The authors propose that prenatal exposure to nitrofen induces a Fryns phenotype in mice, and thus speculate that nitrofen may target similar molecular mechanisms to those that lead to Fryns syndrome." 01/01/2005 - "Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. "
3.	SilverIBA 10/01/2012 - "Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). "
4.	Mycophenolic Acid (Cellcept)FDA LinkGeneric 06/01/2009 - "Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?"
5.	N 30IBA 01/01/2008 - "These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation sequences (laterality sequence, ectopia cordis); malformation complexes (limb body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30, 42.9%). "
6.	T-18 (T 18)IBA 01/01/2001 - "A fetus with pseudo Fryns syndrome and t(18;22) translocation."

Therapies and Procedures

1.	Airway Management 06/16/2023 - "Fryns syndrome cases with variable characteristics require careful preoperative evaluation and have challenges for airway management. "
2.	Perinatal Care 08/01/1994 - "Intensive perinatal care resulted in prolonged survival, which is unusual in individuals with Fryns' syndrome. "