Cornelia-de-lange

Inheritance

 * Autosomal Dominant
 * X-Linked

Molecular Etiology

 * Locus Heterogeneity
 * 50% NIPBL, AD
 * 2-5% germline mosaicism
 * <1% inherited from affected parent
 * RAD21, AD
 * SMC1L1, XL (severe)
 * HDAC89, XL (severe)
 * SMC3 (mild)


 * Part of Cohesin Complex

Associated Birth Defects

 * Cardiac Defects = 25%
 * Limb Defects

Craniofacial Features

 * Microcephaly
 * Synophrys
 * Upturned nose
 * long eyelashes

Gastrointestinal

 * GERD
 * Feeding Difficulties

Skin/Hair

 * hypertrichosis

Endocrine/Growth

 * low birth weight
 * FTT

Respiratory

 * respiratory difficulties

Neurological

 * Intellectual Disability = IQ <30 - 100, average ~53
 * Behavioral Problems
 * Hyperactivity
 * Developmental Delay