Presentation
Acronym SYNS4 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
At present, it is not clearly known whether or not the multiple synososes with craniosynostosis and those without craniosynostosis represent different clinical entities. This problem should be elucidated by careful clinical and genetic studies. [nature.com]
The neuter βιβλίον biblíon "book" is a diminutive of βίβλος bíblos "book", named after the Phoenician port city of Byblos, also called Gibello, Gibelletto or Jebail, 30 km from present-day Beirut. [bibleous.com]
All but one presented with mildly diminished ankle and foot mobility and limited ability to walk long distances because of pain. [karger.com]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. [onlinelibrary.wiley.com]
Synostoses multiple with brachydactyly; WL syndromeDeafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism syndrome; SYNS1; Symphalangism brachydactyly syndrome; Synostoses multiple with brachydactyly; WL syndrome About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]
If the patient receives chronic corticosteroid treatment, preoperative supplementation is indicated. Anesthetic considerations ... [accessanesthesiology.mhmedical.com]
Etiology
[…] type 1, Leber congenital amaurosis type 17, and isolated microphthalmia [Tassabehji et al., 2008; Asai-Coakwell et al., 2009], but since several of these missense mutations are frequently found in normal control populations, their contribution to the etiology [karger.com]
Pathophysiology
Pathophysiology Symphalangism, synostoses of the tarsal and carpal bones, and other abnormalities, including orofacial defects and delayed mental development, occurring alone or as a component of other syndromes. [accessanesthesiology.mhmedical.com]
Prevention
We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. [pubmed.ncbi.nlm.nih.gov]
A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis. [onlinelibrary.wiley.com]