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]

All but one presented with mildly diminished ankle and foot mobility and limited ability to walk long distances because of pain. [karger.com]

• Broad Thumb

  Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes (SABTT), and brachydactyly B2 (BDB2) are overlapping autosomal dominant conditions united by typically [radiopaedia.org]

  thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cone-shaped epiphysis Cone-shaped end part of bone 0010579 5%-29% of people have these symptoms Abnormality of the nail 0001597 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ [rarediseases.info.nih.gov]

• Single Transverse Palmar Crease

  transverse palmar creases 0007598 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cone-shaped epiphysis Cone-shaped end part of bone 0010579 5%-29% of people have these symptoms Abnormality of the nail 0001597 Facial asymmetry Asymmetry of [rarediseases.info.nih.gov]

• Asymptomatic

  The phenotype was carpal and tarsal synostoses with painful feet after walking, but the condition could also be asymptomatic. [karger.com]

• Pain

  The phenotype was carpal and tarsal synostoses with painful feet after walking, but the condition could also be asymptomatic. [karger.com]

• Dysostosis

  Calcaneocuboid coalition in Crouzon syndrome (craniofacial dysostosis). Report of a case and review of literature.J. Bone Jt. Surg. 59-A: 826–827. CAS Google Scholar Inagaki, Y., Aoki, M., and Muramoto, K. 1961. [nature.com]

• Brachydactyly

  Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes (SABTT), and brachydactyly B2 (BDB2) are overlapping autosomal dominant conditions united by typically [radiopaedia.org]

  Synonyms Synostoses multiple with brachydactyly Symphalangism brachydactyly syndrome WL syndrome Deafness-symphalangism syndrome of Herrmann Facioaudiosymphalangism syndrome SYNS1 Overview No overview is available at this time. [rarediseases.org]

  Tarsal-carpal coalition syndrome is characterized by fusion of the carpal, tarsal and phalanges, shortening of the first metacarpal, and humeroradial fusions (Debeer et al. 2004) Brachydactyly, type B2: Brachydactyly refers to shortening of the fingers [preventiongenetics.com]

  Title Other Names: Synostoses multiple with brachydactyly; Symphalangism brachydactyly syndrome; WL syndrome; Synostoses multiple with brachydactyly; Symphalangism brachydactyly syndrome; WL syndrome; Deafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism [rarediseases.info.nih.gov]

• Foot Pain

  without foot pain or reduced walking ability, and he also had an ophthalmology examination that was normal. All patients had broad forefeet with overlapping toes. [karger.com]

• Narrow Face

  face Decreased breadth of face Decreased width of face [ more ] 0000275 Pectus excavatum Funnel chest 0000767 Progressive conductive hearing impairment 0008607 Proximal symphalangism of hands Fused innermost hinge joints 0006152 Radial deviation of finger [rarediseases.info.nih.gov]

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]

If the patient receives chronic corticosteroid treatment, preoperative supplementation is indicated. Anesthetic considerations ... [accessanesthesiology.mhmedical.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

2009], but since several of these missense mutations are frequently found in normal control populations, their contribution to the etiology of these conditions is doubtful [Terhal et al., 2018]. [karger.com]

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]

A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis. [onlinelibrary.wiley.com]