Saethre-Chotzen syndrome

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

v · d · eCongenital abnormality · multiple abnormalities (Q87, 759.7)
Craniofacial
Short stature
1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome
Limbs
Overgrowth
Laurence-Moon-Bardet-Biedl
Bardet–Biedl syndrome · Laurence-Moon syndrome
Combined/other,
known locus
v · d · eGenetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
(1) Basic domains

1.2: Feingold syndrome · Saethre-Chotzen syndrome

1.3: Tietz syndrome
(2) Zinc finger
DNA-binding domains

2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis

2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome

2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2

2.5: Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains

3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome)

3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)

3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)

3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)
(4) β-Scaffold factors
with minor groove contacts

4.2: Hyperimmunoglobulin E syndrome

4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome

4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)

4.11: Cleidocranial dysostosis
(0) Other transcription factors
Ungrouped
TCF4 (Pitt-Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)
Transcription coregulators

coactivator: CREBBP (Rubinstein–Taybi syndrome)

corepressor: HR (Atrichia with papular lesions)
see also transcription factors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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  • 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

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  • 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

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