Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

From OMIM Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature ...

Costello syndrome can be caused by heterozygous de novo missense mutations affecting the codon for glycine-12 or glycine-13 of the HRAS gene. Sol-Church et al.

Costello syndrome (OMIM 218040) is a sporadic condition that appears to display autosomal dominant inheritance. The causative gene was identified in 2005.

A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features.

OMIM Entries for HRAS-Related Costello Syndrome (View All in OMIM)

This syndrome (OMIM 115150) is characterized by congenital heart defects, cutaneous abnormalities, and distinctive facial features bearing some resemblance to ...

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, ...

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin ...