Acronym SYNS3 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Interestingly, unlike the previous SYNS4 families, the family presented here has no history of hearing loss, and a 73-year-old mutation carrier had normal audiometry for his age. [x-mol.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]

• Pain

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

• Strabismus

  […] differentiating features include 5: SYNS1 hands and feet: brachydactyly elbow: elbow joint dysplasia spine: cervical vertebral fusions hearing: early conductive hearing loss facial: long face, broad tubular nose, short philtrum, thin upper vermilion, strabismus [radiopaedia.org]

  […] bone of upper arm Short upper arms [ more ] 0005792 Short lower limbs Short legs 0006385 Short philtrum 0000322 Short sternum 0000879 Single transverse palmar crease 0000954 Spinal canal stenosis Narrow spinal canal 0003416 Stapes ankylosis 0000381 Strabismus [rarediseases.info.nih.gov]

• Brachydactyly of the Foot

  varus/valgus foot anomalies SABTT is known for its broad thumbs and toes in addition to conductive hearing loss brachydactyly is as the name describes Genetics Mutations in specific genes have been found to be responsible for more than one syndrome [radiopaedia.org]

• Foot Pain

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

• Suggestibility

  This has led to the suggestion, that these syndromes are part of a spectrum with variable penetrance 1,4. Whilst these syndromes overlap with respect to causative genes, four SYNS subtypes have been described. [radiopaedia.org]

  They all constitute a group of overlapping syndromes, suggested to be called NOG-related symphalangism spectrum disorders [Potti et al., 2011]. [karger.com]

  The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. [genecards.org]

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]

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]

[…] 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]