Saethre-Chotzen syndrome

(redirected from acroncephalosyndactyly type 3)

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.

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.

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.

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

Saethre,

Haakon, 20th century Norwegian psychiatrist.
Saethre-Chotzen syndrome - Synonym(s): Chotzen syndrome