Digital Health Assistant & Symptom Checker | Symptoma
0%
Restart

Are you sure you want to clear all symptoms and restart the conversation?

About COVID-19 Jobs Press Scholarship Terms Privacy Imprint Medical Device Language
Languages
Suggested Languages
English en
Other languages 0
2.1
Symphalangism - Brachydactyly - Craniosynostosis

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]

Languages
Suggested Languages
English en
Other languages 0
2.1
About Symptoma.com COVID-19 Jobs Press Scholarship
Contact Terms Privacy Imprint Medical Device