Cornelia de lange syndrome Q87.0

Rare, embryonic developmental disorder with formation of a typical anomaly complex with brachycephalic skull formation, dense eyebrows grown together above the root of the nose, long eye lashes, generalized hypertrichosis of the lanugo hair type, particularly dense hair on the neck, elbows, above the spine, small nose with forward protruding nostrils, deep nasal saddle, hypoplastic lower jaw, deep set auricles, small hands and feet.

Additionally livedo reticularis generalisata and hypoplastic papillary lines, melanocytic nevi, hypertelorism, dwarfism, mental retardation, syndactyly.

Cornelia de Lange syndrome, as the main representative of this group of diseases, belongs to the cohesinopathies. To date, mutations have been detected in several genes that form the genetic basis of the cohesinopathies. These are: NIPBL, SMC1A, SMC3, HDAC8, RAD21.

1. K. Nasmyth et al. (2005) The structure and function of SMC and kleisin complexes. Annual Review of Biochemistry 74, 595-648
2. Haering CH et al (2008) The cohesin ring concatenates sister DNA molecules. Nature 454: 297-301.
3. McNairn AJ et al. (2008) Cohesinopathies: one ring, many obligations. Mutation Research 647: 103-111