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Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
ORPHA:3144Classification level: Disorder
Less than 20 cases have been reported in the literature so far.
The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.
This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)
Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.