| 释义 |
Robinow-Sorauf syndrome Robinow-Sorauf syndrome An autosomal dominant condition (OMIM:180750) characterised by minor skull and limb anomalies, which is similar to Saethre-Chotzen syndrome (coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces and clinodactyly), both of which are linked to defects of TWIST1 on chromosome 7p21. |