Skeletal dysplasia

Gene: EED

Green List (high evidence)

Cohen-Gibson syndrome is an overgrowth disorder characterised by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia. At least 4 unrelated individuals reported.

Created: 17 Jan 2021, 7:19 a.m. | Last Modified: 17 Jan 2021, 7:19 a.m.

Panel Version: 0.6070

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome, MIM# 617561

Publications

• 25787343
• 27193220
• 27868325
• 28229514