Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.



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Narrow down the case reports



Total: 50 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(72.9%)		 7554354
 Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?
Preis S, Kaewel EV, Majewski F.
Clin Genet. 1995;47(5):267-9.
Narrow palate Short finger Slanting of the palpebral fissure
Child, Preschool Differential Diagnosis Females Homo sapiens Syndrome
2
(64.3%)		 9934984
 TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH.
Am J Med Genet. 1999;82(2):170-6.
Bicoronal synostosis Unilateral radial aplasia
TWIST1
p|SUB|E|181|X;RS#:104894058 rs104894058 rs1554441994
Adult Craniosynostosis Facies Females Genetic Heterogeneity Homo sapiens Infant, Newborn Male Mutation Nuclear Proteins Syndrome Twist-Related Protein 1
3
(53.1%)		 1227525
 The Saethre-Chotzen syndrome.
Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, Pantke HC, Gorlin RJ.
Birth Defects Orig Artic Ser. 1975;11(2):190-225.
Microcephaly Brachydactyly
Acrocephalosyndactylia Adult Anthropometry Child Craniofacial Dysostosis Craniosynostosis Dermatoglyphics Differential Diagnosis Females Homo sapiens Limb Deformities, Congenital Male Middle Aged Phenotype Syndrome
4
(51.9%)		 9215678
 Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Fuchtbauer EM, Grzeschik KH, Tsuji K, Kunz J.
Hum Mol Genet. 1997;6(7):1079-86.
Facial asymmetry Brachydactyly
TWIST1
Acrocephalosyndactylia Base Sequence Chromosome Breakage Chromosome Mapping Chromosomes, Human, Pair 7 Cosmids DNA, Complementary Genome, Human Homo sapiens Male Molecular Sequence Data Mutation Nuclear Proteins Sequence Analysis, DNA Sequence Deletion Transcription, Genetic Twist-Related Protein 1
5
(48.8%)		 4073118
 A family with the Saethre-Chotzen syndrome.
Bianchi E, Arico M, Podesta AF, Grana M, Fiori P, Beluffi G.
Am J Med Genet. 1985;22(4):649-58.
Microcephaly Syndactyly
Acrocephalosyndactylia Adult Child Females Fingers Homo sapiens Intellectual Disability Male Phenotype
6
(48.4%)		 11314068
 Saethre-Chotzen syndrome: review of the literature and report of a case.
Clauser L, Galie M, Hassanipour A, Calabrese O.
J Craniofac Surg. 2000;11(5):480-6.
Facial asymmetry Scoliosis Clinodactyly
TWIST1
Acrocephalosyndactylia Chromosomes, Human, Pair 7 Craniosynostosis Exophthalmos Females Homo sapiens Nose
7
(47.6%)		 30152628
 Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M.
Dent Med Probl. 2018;55(2):217-225.
Facial asymmetry Syndactyly
Acrocephalosyndactylia Cephalometry Child Females Homo sapiens Panoramic Radiography Phenotype Prognathism Removable Orthodontic Appliances
7
(47.6%)		 19860490
 Saethre-Chotzen syndrome: a case report.
Pena WA, Slavotinek A, Oberoi S.
Cleft Palate Craniofac J. 2010;47(3):318-21.
Syndactyly Deviated nasal septum
TWIST1
p|SUB|R|191|M
Acrocephalosyndactylia Child Females Homo sapiens Mutation Nuclear Proteins Phenotype Twist-Related Protein 1
7
(47.6%)		 12218332
 Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome.
Oktenli C, Saglam M, Zafer E, Gul D.
Nephron. 2002;92(2):463-5.
Syndactyly Deviated nasal septum
PTH
Acrocephalosyndactylia Adult Fanconi Syndrome Homo sapiens Male
10
(44.7%)		 21333765
 Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.
Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D.
Eur J Med Genet. 2011;54(3):256-61.
Microcephaly Epicanthus inversus
TWIST1
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 Face Females Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Infant Male Microcephaly Nuclear Proteins Syndrome Twist-Related Protein 1
        

Phenotype(s) retrieved from Orphanet

    Total: 52

HPO ID Term Frequency
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000929 Abnormal skull morphology Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0000189 Narrow palate Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000270 Delayed cranial suture closure Frequent (79-30%)
HP:0000294 Low anterior hairline Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000426 Prominent nasal bridge Frequent (79-30%)
HP:0000444 Convex nasal ridge Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000643 Blepharospasm Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001357 Plagiocephaly Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0008572 External ear malformation Frequent (79-30%)
HP:0009738 Abnormality of the antihelix Frequent (79-30%)
HP:0009899 Prominent crus of helix Frequent (79-30%)
HP:0010807 Open bite Frequent (79-30%)
HP:0011386 Narrow internal auditory canal Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000327 Hypoplasia of the maxilla Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000405 Conductive hearing impairment Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0000646 Amblyopia Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001199 Triphalangeal thumb Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001822 Hallux valgus Occasional (29-5%)
HP:0002076 Migraine Occasional (29-5%)
HP:0002342 Intellectual disability, moderate Occasional (29-5%)
HP:0002516 Increased intracranial pressure Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0003312 Abnormal form of the vertebral bodies Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0005037 Proximal radio-ulnar synostosis Occasional (29-5%)
HP:0010535 Sleep apnea Occasional (29-5%)
HP:0010720 Abnormal hair pattern Occasional (29-5%)
HP:0011304 Broad thumb Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 24

HPO ID Term # of case reports
HP:0001159 Syndactyly 6
HP:0000508 Ptosis 5
HP:0000324 Facial asymmetry 2
HP:0000486 Strabismus 2
HP:0001156 Brachydactyly 2
HP:0011318 Bicoronal synostosis 2
HP:0012725 Cutaneous syndactyly 2
HP:0000124 Renal tubular dysfunction 1
HP:0000243 Trigonocephaly 1
HP:0000252 Microcephaly 1
HP:0000316 Hypertelorism 1
HP:0001822 Hallux valgus 1
HP:0002090 Pneumonia 1
HP:0002104 Apnea 1
HP:0002205 Recurrent respiratory infections 1
HP:0002678 Skull asymmetry 1
HP:0002870 Obstructive sleep apnea 1
HP:0002878 Respiratory failure 1
HP:0004411 Deviated nasal septum 1
HP:0007477 Abnormal dermatoglyphics 1
HP:0009381 Short finger 1
HP:0010442 Polydactyly 1
HP:0012758 Neurodevelopmental delay 1
HP:0040213 Hypopnea 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
FGFR3 fibroblast growth factor receptor 3 2261
FGFR2 fibroblast growth factor receptor 2 2263
TWIST1 twist family bHLH transcription factor 1 7291