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GTR Home > Conditions/Phenotypes > Saethre-Chotzen syndrome

Saethre-Chotzen syndrome

Synonyms
ACS 3; ACS III; Acrocephalo-syndactyly, type 3; Acrocephaly, skull asymmetry, and mild syndactyly; Chotzen syndrome; Saethre-Chotzen Syndrome, FGFR2-Related
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Saethre-Chotzen Syndrome
Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Emily R Gallagher
Chootima Ratisoontorn
Michael L Cunningham
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Available tests

88 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (88 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, FGFR2
    Summary: fibroblast growth factor receptor 2

  • Also known as: ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38, TWIST1
    Summary: twist family bHLH transcription factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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