Skeletal Dysplasia_Fetal

Gene: SLC35D1

Green List (high evidence)

Schneckenbecken dysplasia is a perinatally lethal skeletal dysplasia, characterised by the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones. Six unrelated families reported.

Created: 21 Dec 2020, 11:47 p.m. | Last Modified: 21 Dec 2020, 11:47 p.m.

Panel Version: 0.354

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)

Publications

• 17952091
• 19508970
• 31423530