Saethre-Chotzen syndrome

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Saethre-Chotzen syndrome (SCS) is a rare congenital acrocephalosyndactylia with a combination of craniosynostosis with syndactyly and symphalangism .

Synonyms are: acrocephalosyndactyly syndrome type III; ACS-Sy type III; ACS3; Chotzen syndrome; English ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY

The name refers to the first authors of the first description from 1931 by the Norwegian doctor Haakon Saethre and 1932 by the Breslau doctor F. Chotzen .

distribution

The frequency is given as 1–9 in 100,000, inheritance is autosomal dominant .

root cause

Of the disease are mutations in TWIST1 - gene at the locus 7p21.1, which encodes a transcription factor for cell development in the cranial mesenchyme during the formation of cranial neural tube. Mutations in the FGF R2 gene at 10q26.13 were found in some patients .

There is a special form with additional eyelid changes.

The Robinow-Sorauf syndrome with the peculiarity of split or partially doubled big toes is regarded as an allele variant of this syndrome.

Clinical manifestations and diagnosis

Clinical criteria are:

Craniosynostosis of the coronary suture with tower skull , brachycephaly , hypoplasia of the maxilla and the supraorbital arches
Facial asymmetry with exophthalmos , hypertelorism , receding forehead, deep hairline, nasal septal deviation , hooked nose
Ptosis , strabismus , progeny , stenosis of the lacrimal duct , deafness , optic atrophy
Brachydactyly . Syndactyly of the fingers, clinodactyly in the 5th ray, symphalangism, broad big toes
mild development deficit

Differential diagnosis

The Pfeiffer syndrome , Muenke syndrome , Baller-Gerold syndrome and Gorlin-Chaudhry-Moss syndrome are to be distinguished

treatment

The treatment consists symptomatically of surgical correction of the suture synostosis, facial asymmetry and jaw hypoplasia, as well as examination of the hearing loss and eye problems.

literature

Michael Eckardt: About four cases of acrocephalosyndactyly. Dissertation . Feder, Mediasch (Transylvania) 1932, OCLC 238858702
SW Eber, HG Luhr, O. Spoerri, W. Weigel, M. Westmeier: Craniofacial corrective surgery for acrocephalosyndactyly syndrome (Saethre-Chotzen syndrome). In: Journal for Pediatric Surgery: organ of the German, Swiss and Austrian Society for Pediatric Surgery = Surgery in infancy and childhood. Vol. 41, No. 5, October 1986, pp. 263-266, doi: 10.1055 / s-2008-1043355 , PMID 3788292 .
P. Fehlow, B. Fröhlich, W. Miosge, W. Otto, F. Walther: Neuropsychiatric accompanying symptoms in Saethre-Chotzen syndrome. In: Advances in neurological psychiatry. Vol. 60, No. 2, February 1992, pp. 66-73, doi: 10.1055 / s-2007-999125 , PMID 1568696 .
J. Gebb, K. Demasio, P. Dar: Prenatal sonographic diagnosis of familial Saethre-Chotzen syndrome. In: Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine. Vol. 30, No. 3, March 2011, pp. 420-422, PMID 21357567 .
H. Rosen, BT Andrews, JG Meara, JM Stoler, JB Mulliken, GF Rogers: Audiologic findings in Saethre-Chotzen syndrome. In: Plastic and reconstructive surgery. Vol. 127, No. 5, May 2011, pp. 2014-2020, doi: 10.1097 / PRS.0b013e31820cf16a , PMID 21532428 .

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c Orphanet
↑ M. Saethre: A contribution to the tower skull problem (pathogenesis, heredity and symptomatology). In: Deutsche Zeitschrift für Nervenheilkunde , Vol. 119, pp. 533–555, 1931.
^ F. Chotzen: A peculiar familial developmental disorder (acrocephalosyndactyly, dysostosis craniofacialis and hypertelorism). In: Monthly Pediatric Medicine , Vol. 55, pp. 97–122, 1932.
↑ Saethre-Chotzen syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ AR Thakur, VG Naikmasur: A case of Robinow Sorauf syndrome (Craniosynostosis-bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. In: Indian journal of dentistry. Vol. 5, No. 2, April 2014, pp. 96-99, doi: 10.4103 / 0975-962X.135276 , PMID 25565733 , PMC 4184321 (free full text).
^ ^A ^b Gallagher ER, Ratisoontorn C, Cunningham ML: Saethre-Chotzen syndrome . PMID 20301368 .

Web links

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Orphanet

[3] M. Saethre: A contribution to the tower skull problem (pathogenesis, heredity and symptomatology). In: Deutsche Zeitschrift für Nervenheilkunde , Vol. 119, pp. 533–555, 1931.

[4] F. Chotzen: A peculiar familial developmental disorder (acrocephalosyndactyly, dysostosis craniofacialis and hypertelorism). In: Monthly Pediatric Medicine , Vol. 55, pp. 97–122, 1932.

[5] Saethre-Chotzen syndrome. In: Online Mendelian Inheritance in Man . (English)

[6] AR Thakur, VG Naikmasur: A case of Robinow Sorauf syndrome (Craniosynostosis-bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. In: Indian journal of dentistry. Vol. 5, No. 2, April 2014, pp. 96-99, doi: 10.4103 / 0975-962X.135276 , PMID 25565733 , PMC 4184321 (free full text).

[Pagon-7] A ^b Gallagher ER, Ratisoontorn C, Cunningham ML: Saethre-Chotzen syndrome . PMID 20301368 .