Saethre-Chotzen syndrome

Saethre-Chotzen syndrome
Classification and external resources
OMIM 101400
DiseasesDB 29331
MeSH D000168

Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome,[1] is a very rare autosomal dominant[2] congenital disorder characterized by acrocephalosyndactyly, craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). It is caused by mutations in the TWIST transcription factor (TWIST) gene.[2][3]

Contents

Characteristics

Classic features include:

  1. synostosis of the coronal sutures of the skull resulting in characteristic faces including ptosis, facial asymmetry and small ears
  2. syndactyly of the fingers, particularly of the second and third digits
  3. Intelligence is usually normal. Some affected individuals may have mild to moderate mental retardation.

Cause and genetics

Saethre-Chotzen syndrome has an autosomal dominant pattern of inheritance.

SCS is caused by a mutation in the TWIST gene, located on human chromosome 7p21.[2][3] Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 7 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Epidemiology

The incidence of this rare syndrome is estimated at between 1 in 25,000–50,000 live births.

See also

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 101400
  2. ^ a b c Kress, W.; Schropp, C.; Lieb, G.; Petersen, B.; Büsse-Ratzka, M.; Kunz, J.; Reinhart, E.; Schäfer, W. D. et al. (Jan 2006). "Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome" (Free full text). European Journal of Human Genetics 14 (1): 39–48. doi:10.1038/sj.ejhg.5201507. PMID 16251895. http://www.nature.com/ejhg/journal/v14/n1/full/5201507a.html.  edit
  3. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 601622

External links


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Look at other dictionaries:

  • Saethre-Chotzen syndrome — Saethre Chot·zen syndrome (saґtrə kotґzən) [Haakon Saethre, Norwegian psychiatrist, 1891–1945; Fritz Chotzen, German psychiatrist, 1871–1937] Chotzen syndrome …   Medical dictionary

  • Saethre-Chotzen syndrome — Chotzen s …   Medical dictionary

  • Syndrome de saethre-chotzen — Autre nom Acrocéphalosyndactylie type III Référence MIM …   Wikipédia en Français

  • Syndrome de Saethre-Chotzen — Référence MIM 101400 Transmission Dominante Chromosome 7p21 Gène TWIST Empreinte parentale Non …   Wikipédia en Français

  • Chotzen syndrome — an autosomal dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis, and sometimes mental retardation. Called also acrocephalosyndactyly, type III and Saethre Chotzen s …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

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