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]

• 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. [x-mol.com]

• Pain

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

• Hearing Impairment

  Showing of 48 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Joint stiffness Stiff [rarediseases.info.nih.gov]

• Ankylosis

  Pathology They all typically display ankylosis of the PIP joints, carpal and tarsal bones. [radiopaedia.org]

  Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. Clinical Genetics 82: 514–520. [preventiongenetics.com]

  […] humerus Short long 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 [rarediseases.info.nih.gov]

• Skeletal Dysplasia

  We show that SYNS4 is a skeletal dysplasia with a consistent and highly penetrant tendency to form carpal and tarsal synostoses, and that such synostoses can be asymptomatic. [karger.com]

  Stapes ankylosis with broad thumb and toes (also called Teunissen-Cremers syndrome) is characterized by progressive conductive hearing loss with subtle skeletal dysplasias (Brown et al. 2002). [preventiongenetics.com]

• 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]

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]