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]

• Broad Thumb

  Reference article, Radiopaedia.org (Accessed on 28 Nov 2022) https://radiopaedia.org/articles/50073 Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes [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]

• Short Finger

  Le frasi di esempio con brachydactyly contengono almeno 9 traduzioni. brachydactyly noun (medicine) Abnormal shortness of the fingers or toes Brachidattilia en A bone development disease characterized by short fingers and toes. [it.glosbe.com]

  0009466 Short foot Short feet Small feet [ more ] 0001773 Short hallux Short big toe 0010109 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short lower limbs Short legs 0006385 Short philtrum 0000322 Short sternum 0000879 [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]

• Hearing Impairment

  Impairment Science of Ministry of Education, Beijing, China Key Lab of Hearing Impairment Prevention and Treatment of Beijing, Beijing, China Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University [onlinelibrary.wiley.com]

  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]

• 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]

  Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.J. Med. Genet. 13: 394–398. [nature.com]

  […] 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

  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]

  Brachydactyly/syndactyly: Fingers and toes of both the hands and feet may be abnormally short, which is common (brachydactyly/syndactyly occurs in approximately 70% of cases). [it.glosbe.com]

  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]

• 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]

  Similar articles Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N. Usami S, et al. [pubmed.ncbi.nlm.nih.gov]

  […] 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]

• 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]

• Fracture

  Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects: Original Article Series, XI(2), pp. 397–401. Google Scholar Berant, M., and Berant, N. 1973. [nature.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]

  In the late 20th century, Christian theologians suggested abandoning the term 'Old Testament' because it sounded derogatory and speaking instead of the 'First Testament'. Among these theologians were Erich Zenger and JA Sanders. [bibleous.com]

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]

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]

[…] 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 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]

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]