Saethre-Chotzen syndrome
(redirected from Acrocephalosyndactyly 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.
Synonym(s): acrocephalosyndactyly type III, 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
Saethre-Chotzen syndrome
[sā′trə·kot′zən]
Etymology: Haakon Saethre, Norwegian psychiatrist, 20th century; F. Chotzen, German psychiatrist, 20th century
an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis, and sometimes mental retardation. Also called acrocephalosyndactyly, type III; Chotzen's syndrome.
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