Hypertrichosis syndromes

Gene: RAD21

Green List (high evidence)

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 1% of patients have mutations in RAD21 gene.

Deardorff et al. (2012) reported 6 patients with CdLS phenotype with heterozygous variants (4 microdeletions incl RAD21, and 2 missense variants), showing functional evidence for the missense variants.

Krab et al. (2020) reported the clinical and molecular data in 29 patients from 22 families with CDLS4 and RAD21 variants

Many other case reports.

Created: 20 Aug 2021, 12:14 a.m. | Last Modified: 20 Aug 2021, 12:14 a.m.

Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 4, MIM # 614701

Publications

• 22633399
• 32193685
• 27882533
• 30716475
• 30125677
• 24378232