Cornelia de Lange syndrome type 3
Cornelia de Lange syndrome type 3A mild form (OMIM:610759) of Cornelia de Lange syndrome (CDLS), a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. CDLS is characterised by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation and various other malformations including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. CDLS3 lacks the major structural anomalies typically associated with CDLS; the phenotype approaches that of non-syndromic mental retardation.
Defects of SMC3, which encodes a protein that plays a critical role in the cohesin complex required for chromosome cohesion during cell cycle, cause Cornelia de Lange syndrome type 3.