Saethre-Chotzen syndrome

Saethre-Chot·zen syn·drome

(sayt'rĕ chŏt'zen),

condition characterized by craniosynostosis, asymmetry of skull (plagiocephaly), ptosis, prominent ear crus, and cutaneous syndactyly of fingers 2-3 and toes 3-4; autosomal dominant inheritance, caused by mutation in the TWIST transcription factor gene on chromosome 7p.

Synonym(s): acrocephalosyndactyly type III, Chotzen syndrome

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Saethre-Chot·zen syn·drome

(sayt'rĕ chŏt'zen),

condition characterized by craniosynostosis, asymmetry of skull (plagiocephaly), ptosis, prominent ear crus, and cutaneous syndactyly of fingers 2-3 and toes 3-4; autosomal dominant inheritance, caused by mutation in the TWIST transcription factor gene on chromosome 7p.

Synonym(s): acrocephalosyndactyly type III, Chotzen syndrome

Farlex Partner Medical Dictionary © Farlex 2012

Saethre-Chotzen syndrome

A craniosynostosis syndrome (OMIM:101400) characterised by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces and clinodactyly; about half of female patients with Saethre-Chotzen syndrome eventually develop breast cancer.

Molecular pathology
Caused by defects of TWIST1, which encodes a basic helix-loop-helix (bHLH) transcription factor, and FGFR2, which encodes fibroblast growth factor receptor.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Chotzen,

F., 20th century German physician.

Chotzen syndrome - syndactyly, mild mental retardation, hypertelorism, and occasional ptosis.Synonym(s): Saethre-Chotzen syndrome

Saethre-Chotzen syndrome - Synonym(s): Chotzen syndrome

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Saethre,

Haakon, 20th century Norwegian psychiatrist.

Saethre-Chotzen syndrome - Synonym(s): Chotzen syndrome

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