Growth failure
Gene: CUL7
3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus.
More than 100 unrelated families reported.
Note a specific founder variant has been associated with Yakut short stature syndrome, which has overlapping clinical features.Created: 6 Aug 2021, 12:30 a.m. | Last Modified: 6 Aug 2021, 12:30 a.m.
Panel Version: 0.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 1, MIM# 273750; Yakut short stature syndrome
Publications
Gene: cul7 has been classified as Green List (High Evidence).
Phenotypes for gene: CUL7 were changed from 3M; 3-M syndrome 1, 273750 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome
Publications for gene: CUL7 were set to
gene: CUL7 was added gene: CUL7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3M; 3-M syndrome 1, 273750